Canonical Allele Identifier: CA1637329

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336076
• ClinVar RCV Id: RCV000387716 ; RCV000595758 ; RCV002057697 ; RCV002328861 ; RCV003922456
• dbSNP Id: rs139902223
• ExAC: 2:44099404 G / A
• gnomAD v2: 2-44099404-G-A
• gnomAD v3: 2-43872265-G-A
• gnomAD v4: 2-43872265-G-A
• COSMIC: COSM1021061
• MyVariant Identifiers: chr2:g.44099404G>A (hg19) ; chr2:g.43872265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872265G>A , CM000664.2:g.43872265G>A	GRCh38
NC_000002.11:g.44099404G>A , CM000664.1:g.44099404G>A	GRCh37
NC_000002.10:g.43952908G>A	NCBI36
NG_008884.1:g.38302G>A
NG_008884.2:g.45324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1170G>A MANE Select	ENSP00000272286.2:p.Thr390=
ENST00000644611.1:c.1182G>A	ENSP00000495423.1:p.Thr394=
ENST00000272286.2:c.1170G>A	ENSP00000272286.2:p.Thr390=
NM_022437.2:c.1170G>A	NP_071882.1:p.Thr390=
XM_005264483.2:c.1167G>A	XP_005264540.1:p.Thr389=
XM_011533029.1:c.1182G>A	XP_011531331.1:p.Thr394=
XM_011533030.1:c.1179G>A	XP_011531332.1:p.Thr393=
XM_011533031.1:c.954G>A	XP_011531333.1:p.Thr318=
XR_939707.1:n.1672G>A
NM_001357321.1:c.1167G>A	NP_001344250.1:p.Thr389=
XM_011533029.2:c.1182G>A	XP_011531331.1:p.Thr394=
XM_011533030.2:c.1179G>A	XP_011531332.1:p.Thr393=
XR_001738891.1:n.1686G>A
XR_939707.2:n.1686G>A
NM_022437.3:c.1170G>A MANE Select	NP_071882.1:p.Thr390=
NM_001357321.2:c.1167G>A	NP_001344250.1:p.Thr389=