Canonical Allele Identifier: CA1637603

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2741244
• ClinVar RCV Id: RCV003576032
• dbSNP Id: rs762908915
• ExAC: 2:44102513 G / A
• gnomAD v2: 2-44102513-G-A
• gnomAD v3: 2-43875374-G-A
• gnomAD v4: 2-43875374-G-A
• MyVariant Identifiers: chr2:g.44102513G>A (hg19) ; chr2:g.43875374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875374G>A , CM000664.2:g.43875374G>A	GRCh38
NC_000002.11:g.44102513G>A , CM000664.1:g.44102513G>A	GRCh37
NC_000002.10:g.43956017G>A	NCBI36
NG_008884.1:g.41411G>A
NG_008884.2:g.48433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1717G>A MANE Select	ENSP00000272286.2:p.Ala573Thr
ENST00000272286.2:c.1717G>A	ENSP00000272286.2:p.Ala573Thr
NM_022437.2:c.1717G>A	NP_071882.1:p.Ala573Thr
XM_005264483.2:c.1714G>A	XP_005264540.1:p.Ala572Thr
XM_011533029.1:c.1729G>A	XP_011531331.1:p.Ala577Thr
XM_011533030.1:c.1726G>A	XP_011531332.1:p.Ala576Thr
XM_011533031.1:c.1501G>A	XP_011531333.1:p.Ala501Thr
XR_939707.1:n.2219G>A
NM_001357321.1:c.1714G>A	NP_001344250.1:p.Ala572Thr
XM_011533029.2:c.1729G>A	XP_011531331.1:p.Ala577Thr
XM_011533030.2:c.1726G>A	XP_011531332.1:p.Ala576Thr
XR_001738891.1:n.2233G>A
XR_939707.2:n.2233G>A
NM_022437.3:c.1717G>A MANE Select	NP_071882.1:p.Ala573Thr
NM_001357321.2:c.1714G>A	NP_001344250.1:p.Ala572Thr