Canonical Allele Identifier: CA1637577

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 501367
• ClinVar RCV Id: RCV000593013 ; RCV003139898 ; RCV003323628 ; RCV004024818
• dbSNP Id: rs149441561
• ExAC: 2:44102444 G / A
• gnomAD v2: 2-44102444-G-A
• gnomAD v3: 2-43875305-G-A
• gnomAD v4: 2-43875305-G-A
• COSMIC: COSM278557
• MyVariant Identifiers: chr2:g.44102444G>A (hg19) ; chr2:g.43875305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875305G>A , CM000664.2:g.43875305G>A	GRCh38
NC_000002.11:g.44102444G>A , CM000664.1:g.44102444G>A	GRCh37
NC_000002.10:g.43955948G>A	NCBI36
NG_008884.1:g.41342G>A
NG_008884.2:g.48364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1648G>A MANE Select	ENSP00000272286.2:p.Ala550Thr
ENST00000272286.2:c.1648G>A	ENSP00000272286.2:p.Ala550Thr
NM_022437.2:c.1648G>A	NP_071882.1:p.Ala550Thr
XM_005264483.2:c.1645G>A	XP_005264540.1:p.Ala549Thr
XM_011533029.1:c.1660G>A	XP_011531331.1:p.Ala554Thr
XM_011533030.1:c.1657G>A	XP_011531332.1:p.Ala553Thr
XM_011533031.1:c.1432G>A	XP_011531333.1:p.Ala478Thr
XR_939707.1:n.2150G>A
NM_001357321.1:c.1645G>A	NP_001344250.1:p.Ala549Thr
XM_011533029.2:c.1660G>A	XP_011531331.1:p.Ala554Thr
XM_011533030.2:c.1657G>A	XP_011531332.1:p.Ala553Thr
XR_001738891.1:n.2164G>A
XR_939707.2:n.2164G>A
NM_022437.3:c.1648G>A MANE Select	NP_071882.1:p.Ala550Thr
NM_001357321.2:c.1645G>A	NP_001344250.1:p.Ala549Thr