Canonical Allele Identifier: CA2112112202
Gene: ABCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95170577C= , CM000675.2:g.95170577C= GRCh38
NC_000013.10:g.95822831C= , CM000675.1:g.95822831C= GRCh37
NC_000013.9:g.94620832C= NCBI36
NG_050651.1:g.135870G=
NG_050651.2:g.135870G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000642524.1:c.*1812G= ENSP00000493766.1:n.*1812G=
ENST00000643051.1:c.1779G= ENSP00000495513.1:p.Gln593=
ENST00000643556.1:c.1920G= ENSP00000494938.1:n.1920G=
ENST00000643816.1:n.2062G=
ENST00000643842.1:c.*1825G= ENSP00000493861.1:n.*1825G=
ENST00000644471.1:n.1870G=
ENST00000645237.2:c.1779G= MANE Select ENSP00000494609.1:p.Gln593=
ENST00000645532.1:c.1818G= ENSP00000494431.1:p.Gln606=
ENST00000646439.1:c.1779G= ENSP00000494751.1:p.Gln593=
ENST00000376887.8:c.1779G= ENSP00000366084.4:p.Gln593=
ENST00000536256.3:c.1554G= ENSP00000442024.1:p.Gln518=
ENST00000629385.1:c.1779G= ENSP00000487081.1:p.Gln593=
NM_001105515.2:c.1779G= NP_001098985.1:p.Gln593=
NM_001301829.1:c.1779G= NP_001288758.1:p.Gln593=
NM_001301830.1:c.1554G= NP_001288759.1:p.Gln518=
NM_005845.4:c.1779G= NP_005836.2:p.Gln593=
XM_005254025.2:c.1650G= XP_005254082.1:p.Gln550=
XM_006719914.1:c.1689G= XP_006719977.1:p.Gln563=
XM_011521047.1:c.1230G= XP_011519349.1:p.Gln410=
XM_017020319.1:c.1650G= XP_016875808.1:p.Gln550=
XM_017020320.2:c.1779G= XP_016875809.1:p.Gln593=
XM_017020321.1:c.264G= XP_016875810.1:p.Gln88=
XM_017020322.1:c.1650G= XP_016875811.1:p.Gln550=
NM_001105515.3:c.1779G= NP_001098985.1:p.Gln593=
NM_001301829.2:c.1779G= NP_001288758.1:p.Gln593=
NM_001301830.2:c.1554G= NP_001288759.1:p.Gln518=
NM_005845.5:c.1779G= MANE Select NP_005836.2:p.Gln593=