Canonical Allele Identifier: CA346671177

Gene: ABCG8

Linked Data

• dbSNP Id: rs6544718
• gnomAD v3: 2-43877786-T-A
• gnomAD v4: 2-43877786-T-A
• MyVariant Identifiers: chr2:g.44104925T>A (hg19) ; chr2:g.43877786T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877786T>A , CM000664.2:g.43877786T>A	GRCh38
NC_000002.11:g.44104925T>A , CM000664.1:g.44104925T>A	GRCh37
NC_000002.10:g.43958429T>A	NCBI36
NG_008884.1:g.43823T>A
NG_008884.2:g.50845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1895T>A MANE Select	ENSP00000272286.2:p.Val632Asp
ENST00000272286.2:c.1895T>A	ENSP00000272286.2:p.Val632Asp
NM_022437.2:c.1895T>A	NP_071882.1:p.Val632Asp
XM_005264483.2:c.1892T>A	XP_005264540.1:p.Val631Asp
XM_011533029.1:c.1907T>A	XP_011531331.1:p.Val636Asp
XM_011533030.1:c.1904T>A	XP_011531332.1:p.Val635Asp
XM_011533031.1:c.1679T>A	XP_011531333.1:p.Val560Asp
XR_939707.1:n.2397T>A
NM_001357321.1:c.1892T>A	NP_001344250.1:p.Val631Asp
XM_011533029.2:c.1907T>A	XP_011531331.1:p.Val636Asp
XM_011533030.2:c.1904T>A	XP_011531332.1:p.Val635Asp
XR_001738891.1:n.2411T>A
XR_939707.2:n.2411T>A
NM_022437.3:c.1895T>A MANE Select	NP_071882.1:p.Val632Asp
NM_001357321.2:c.1892T>A	NP_001344250.1:p.Val631Asp