Canonical Allele Identifier: CA346670435

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875264-G-A
• MyVariant Identifiers: chr2:g.44102403G>A (hg19) ; chr2:g.43875264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875264G>A , CM000664.2:g.43875264G>A	GRCh38
NC_000002.11:g.44102403G>A , CM000664.1:g.44102403G>A	GRCh37
NC_000002.10:g.43955907G>A	NCBI36
NG_008884.1:g.41301G>A
NG_008884.2:g.48323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1607G>A MANE Select	ENSP00000272286.2:p.Trp536Ter
ENST00000272286.2:c.1607G>A	ENSP00000272286.2:p.Trp536Ter
NM_022437.2:c.1607G>A	NP_071882.1:p.Trp536Ter
XM_005264483.2:c.1604G>A	XP_005264540.1:p.Trp535Ter
XM_011533029.1:c.1619G>A	XP_011531331.1:p.Trp540Ter
XM_011533030.1:c.1616G>A	XP_011531332.1:p.Trp539Ter
XM_011533031.1:c.1391G>A	XP_011531333.1:p.Trp464Ter
XR_939707.1:n.2109G>A
NM_001357321.1:c.1604G>A	NP_001344250.1:p.Trp535Ter
XM_011533029.2:c.1619G>A	XP_011531331.1:p.Trp540Ter
XM_011533030.2:c.1616G>A	XP_011531332.1:p.Trp539Ter
XR_001738891.1:n.2123G>A
XR_939707.2:n.2123G>A
NM_022437.3:c.1607G>A MANE Select	NP_071882.1:p.Trp536Ter
NM_001357321.2:c.1604G>A	NP_001344250.1:p.Trp535Ter