Canonical Allele Identifier: CA830869352

Gene: C7orf50

Linked Data

• dbSNP Id: rs1432177231
• gnomAD v3: 7-1044032-A-C
• gnomAD v4: 7-1044032-A-C
• MyVariant Identifiers: chr7:g.1083668A>C (hg19) ; chr7:g.1044032A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1044032A>C , CM000669.2:g.1044032A>C	GRCh38
NC_000007.13:g.1083668A>C , CM000669.1:g.1083668A>C	GRCh37
NC_000007.12:g.1050194A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397098.8:c.130-33889T>G MANE Select	ENSP00000380286.3:n.130-33889T>G
ENST00000357429.10:c.130-33889T>G	ENSP00000350011.5:n.130-33889T>G
ENST00000397098.7:c.130-33889T>G	ENSP00000380286.3:n.130-33889T>G
ENST00000397100.6:c.130-33889T>G	ENSP00000380288.2:n.130-33889T>G
ENST00000444428.5:c.33+11242T>G	ENSP00000396542.1:n.33+11242T>G
ENST00000488073.1:n.267-33889T>G
ENST00000491163.1:c.130-33889T>G	ENSP00000420130.1:n.130-33889T>G
NM_001134395.1:c.130-33889T>G	NP_001127867.1:n.130-33889T>G
NM_001134396.1:c.130-33889T>G	NP_001127868.1:n.130-33889T>G
NM_032350.5:c.130-33889T>G	NP_115726.1:n.130-33889T>G
XM_005249888.3:c.130-33889T>G	XP_005249945.1:n.130-33889T>G
XM_011515581.1:c.130-33889T>G	XP_011513883.1:n.130-33889T>G
XM_011515582.1:c.130-33889T>G	XP_011513884.1:n.130-33889T>G
XM_011515583.1:c.130-33889T>G	XP_011513885.1:n.130-33889T>G
XM_011515584.1:c.130-33889T>G	XP_011513886.1:n.130-33889T>G
NM_001318252.1:c.130-33889T>G	NP_001305181.1:n.130-33889T>G
NM_001350968.1:c.130-33889T>G	NP_001337897.1:n.130-33889T>G
XM_011515581.3:c.130-33889T>G	XP_011513883.1:n.130-33889T>G
XM_011515582.3:c.130-33889T>G	XP_011513884.1:n.130-33889T>G
XM_011515583.2:c.130-33889T>G	XP_011513885.1:n.130-33889T>G
XM_011515584.2:c.130-33889T>G	XP_011513886.1:n.130-33889T>G
XM_017012720.2:c.130-33889T>G	XP_016868209.1:n.130-33889T>G
XM_017012721.2:c.-144-22441T>G	XP_016868210.1:n.-144-22441T>G
XM_024446977.1:c.130-33889T>G	XP_024302745.1:n.130-33889T>G
XM_024446978.1:c.-144-22441T>G	XP_024302746.1:n.-144-22441T>G
NM_001318252.2:c.130-33889T>G MANE Select	NP_001305181.1:n.130-33889T>G