Canonical Allele Identifier: CA344333871
Gene: ZBED6 HGNC NCBI
ZC3H11A HGNC NCBI

Linked Data

ClinVar Variation Id: 2334047
ClinVar RCV Id: RCV004179368
gnomAD v4: 1-203798705-C-G
MyVariant Identifiers: chr1:g.203767833C>G (hg19) chr1:g.203798705C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.203798705C>G , CM000663.2:g.203798705C>G GRCh38
NC_000001.10:g.203767833C>G , CM000663.1:g.203767833C>G GRCh37
NC_000001.9:g.202034456C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000550078.3:c.1183C>G (ZBED6) MANE Select ENSP00000447879.1:p.Gln395Glu
ENST00000367210.3:c.-1587-2870C>G (ZC3H11A) MANE Select ENSP00000356179.1:n.-1587-2870C>G
ENST00000550078.2:c.1183C>G (ZBED6) ENSP00000447879.1:p.Gln395Glu
ENST00000638800.1:c.-1588+2098C>G (ZC3H11A) ENSP00000491483.1:n.-1588+2098C>G
ENST00000639812.1:c.-4457C>G (ZC3H11A) ENSP00000491830.1:n.-4457C>G
ENST00000332127.8:c.-565+2209C>G (ZC3H11A) ENSP00000333253.4:n.-565+2209C>G
ENST00000367212.7:c.-260+2209C>G (ZC3H11A) ENSP00000356181.3:n.-260+2209C>G
ENST00000367214.5:c.-565+2104C>G (ZC3H11A) ENSP00000356183.1:n.-565+2104C>G
ENST00000432282.5:c.-260+2104C>G (ZC3H11A) ENSP00000406531.1:n.-260+2104C>G
ENST00000453771.5:c.-206+2911C>G (ZC3H11A) ENSP00000415072.1:n.-206+2911C>G
ENST00000461980.1:n.136-2870C>G (ZC3H11A)
ENST00000466470.5:n.345+2209C>G (ZC3H11A)
ENST00000550078.1:c.1183C>G (ZBED6) ENSP00000447879.1:p.Gln395Glu
NM_001174108.1:c.1183C>G (ZBED6) NP_001167579.1:p.Gln395Glu
NM_014827.4:c.-260+2209C>G (ZC3H11A) NP_055642.3:n.-260+2209C>G
XM_005245643.2:c.-260+2209C>G (ZC3H11A) XP_005245700.1:n.-260+2209C>G
XM_005245644.3:c.-259-2870C>G (ZC3H11A) XP_005245701.1:n.-259-2870C>G
XM_006711673.2:c.-260+2104C>G (ZC3H11A) XP_006711736.1:n.-260+2104C>G
XM_011510199.1:c.-1587-2870C>G (ZC3H11A) XP_011508501.1:n.-1587-2870C>G
XM_011510200.1:c.-647-2870C>G (ZC3H11A) XP_011508502.1:n.-647-2870C>G
XM_011510201.1:c.-648+2209C>G (ZC3H11A) XP_011508503.1:n.-648+2209C>G
XM_011510202.1:c.-594+2911C>G (ZC3H11A) XP_011508504.1:n.-594+2911C>G
XM_011510203.1:c.-260+2104C>G (ZC3H11A) XP_011508505.1:n.-260+2104C>G
NM_001174108.2:c.1183C>G (ZBED6) NP_001167579.1:p.Gln395Glu
NM_001319238.1:c.-565+2104C>G (ZC3H11A) NP_001306167.1:n.-565+2104C>G
NM_001319239.1:c.-565+2209C>G (ZC3H11A) NP_001306168.1:n.-565+2209C>G
NM_001350261.1:c.-260+2209C>G (ZC3H11A) NP_001337190.1:n.-260+2209C>G
NM_001350262.1:c.-260+2104C>G (ZC3H11A) NP_001337191.1:n.-260+2104C>G
NM_001350263.1:c.-259-2870C>G (ZC3H11A) NP_001337192.1:n.-259-2870C>G
NM_001350264.1:c.-594+2911C>G (ZC3H11A) NP_001337193.1:n.-594+2911C>G
NM_001350265.1:c.-647-2870C>G (ZC3H11A) NP_001337194.1:n.-647-2870C>G
NM_001350266.1:c.-260+2209C>G (ZC3H11A) NP_001337195.1:n.-260+2209C>G
NM_014827.5:c.-260+2209C>G (ZC3H11A) NP_055642.3:n.-260+2209C>G
XM_011510199.2:c.-1587-2870C>G (ZC3H11A) XP_011508501.1:n.-1587-2870C>G
XM_011510200.2:c.-647-2870C>G (ZC3H11A) XP_011508502.1:n.-647-2870C>G
XM_017002957.2:c.-1588+2104C>G (ZC3H11A) XP_016858446.1:n.-1588+2104C>G
XM_017002958.1:c.-1588+2104C>G (ZC3H11A) XP_016858447.1:n.-1588+2104C>G
XM_017002959.2:c.-648+2104C>G (ZC3H11A) XP_016858448.1:n.-648+2104C>G
XM_017002961.2:c.-1587-2870C>G (ZC3H11A) XP_016858450.1:n.-1587-2870C>G
NM_001319238.2:c.-565+2104C>G (ZC3H11A) NP_001306167.1:n.-565+2104C>G
NM_001319239.2:c.-565+2209C>G (ZC3H11A) NP_001306168.1:n.-565+2209C>G
NM_001350261.2:c.-260+2209C>G (ZC3H11A) NP_001337190.1:n.-260+2209C>G
NM_001350262.2:c.-260+2104C>G (ZC3H11A) NP_001337191.1:n.-260+2104C>G
NM_001350263.2:c.-259-2870C>G (ZC3H11A) NP_001337192.1:n.-259-2870C>G
NM_001350264.2:c.-594+2911C>G (ZC3H11A) NP_001337193.1:n.-594+2911C>G
NM_001350265.2:c.-647-2870C>G (ZC3H11A) NP_001337194.1:n.-647-2870C>G
NM_001350266.2:c.-260+2209C>G (ZC3H11A) NP_001337195.1:n.-260+2209C>G
NM_001376334.1:c.-1588+2104C>G (ZC3H11A) NP_001363263.1:n.-1588+2104C>G
NM_001376335.1:c.-260+2104C>G (ZC3H11A) NP_001363264.1:n.-260+2104C>G
NM_001376336.1:c.-146+2911C>G (ZC3H11A) NP_001363265.1:n.-146+2911C>G
NM_001376337.1:c.-575-2870C>G (ZC3H11A) NP_001363266.1:n.-575-2870C>G
NM_001376338.1:c.-1588+2209C>G (ZC3H11A) NP_001363267.1:n.-1588+2209C>G
NM_001376339.1:c.-1588+2209C>G (ZC3H11A) NP_001363268.1:n.-1588+2209C>G
NM_001376340.1:c.-1588+2104C>G (ZC3H11A) NP_001363269.1:n.-1588+2104C>G
NM_001376341.1:c.-647-2870C>G (ZC3H11A) NP_001363270.1:n.-647-2870C>G
NM_001376342.1:c.-1587-2870C>G (ZC3H11A) MANE Select NP_001363271.1:n.-1587-2870C>G
NM_001376343.1:c.-1588+2351C>G (ZC3H11A) NP_001363272.1:n.-1588+2351C>G
NM_001376344.1:c.-1588+2351C>G (ZC3H11A) NP_001363273.1:n.-1588+2351C>G
NM_001376345.1:c.-1588+2209C>G (ZC3H11A) NP_001363274.1:n.-1588+2209C>G
NM_001376346.1:c.-1588+2104C>G (ZC3H11A) NP_001363275.1:n.-1588+2104C>G
NM_001376347.1:c.-564-2870C>G (ZC3H11A) NP_001363276.1:n.-564-2870C>G
NM_001376348.1:c.-1588+2104C>G (ZC3H11A) NP_001363277.1:n.-1588+2104C>G
NM_001376349.1:c.-511+2911C>G (ZC3H11A) NP_001363278.1:n.-511+2911C>G
NM_001376350.1:c.-594+2930C>G (ZC3H11A) NP_001363279.1:n.-594+2930C>G
NM_001376351.1:c.-565+2104C>G (ZC3H11A) NP_001363280.1:n.-565+2104C>G
NM_001376352.1:c.-270-2870C>G (ZC3H11A) NP_001363281.1:n.-270-2870C>G
NM_001376353.1:c.-565+2209C>G (ZC3H11A) NP_001363282.1:n.-565+2209C>G
NM_001376354.1:c.-647-2870C>G (ZC3H11A) NP_001363283.1:n.-647-2870C>G
NM_001376355.1:c.-259-2870C>G (ZC3H11A) NP_001363284.1:n.-259-2870C>G
NM_001376356.1:c.-260+2104C>G (ZC3H11A) NP_001363285.1:n.-260+2104C>G
NM_001376357.1:c.-260+2209C>G (ZC3H11A) NP_001363286.1:n.-260+2209C>G
NM_001376358.1:c.-648+2209C>G (ZC3H11A) NP_001363287.1:n.-648+2209C>G
NM_001376359.1:c.-565+2104C>G (ZC3H11A) NP_001363288.1:n.-565+2104C>G
NM_001376360.1:c.-1587-2870C>G (ZC3H11A) NP_001363289.1:n.-1587-2870C>G
NM_001376361.1:c.-565+2098C>G (ZC3H11A) NP_001363290.1:n.-565+2098C>G
NM_001376362.1:c.-294+2104C>G (ZC3H11A) NP_001363291.1:n.-294+2104C>G
NM_001376363.1:c.-271+2351C>G (ZC3H11A) NP_001363292.1:n.-271+2351C>G
NM_001376364.1:c.-206+2911C>G (ZC3H11A) NP_001363293.1:n.-206+2911C>G
NM_001376365.1:c.-206+2930C>G (ZC3H11A) NP_001363294.1:n.-206+2930C>G
NM_001376366.1:c.-1587-2870C>G (ZC3H11A) NP_001363295.1:n.-1587-2870C>G
NM_001376367.1:c.-1588+2209C>G (ZC3H11A) NP_001363296.1:n.-1588+2209C>G
NM_014827.6:c.-260+2209C>G (ZC3H11A) NP_055642.3:n.-260+2209C>G
NM_001395895.1:c.1183C>G (ZBED6) MANE Select NP_001382824.1:p.Gln395Glu
Search 100 bp 5'
Search 100 bp 3'