Canonical Allele Identifier: CA253359

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 4967
• ClinVar RCV Id: RCV000005255 ; RCV000255446 ; RCV000993693 ; RCV002426490 ; RCV003407277 ; RCV002504749
• dbSNP Id: rs137852987
• ExAC: 2:44099233 G / A
• gnomAD v2: 2-44099233-G-A
• gnomAD v3: 2-43872094-G-A
• gnomAD v4: 2-43872094-G-A
• MyVariant Identifiers: chr2:g.44099233G>A (hg19) ; chr2:g.43872094G>A (hg38)
• PubMed: PMID:4360855 ; PMID:11099417 ; PMID:11452359 ; PMID:16029460

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872094G>A , CM000664.2:g.43872094G>A	GRCh38
NC_000002.11:g.44099233G>A , CM000664.1:g.44099233G>A	GRCh37
NC_000002.10:g.43952737G>A	NCBI36
NG_008884.1:g.38131G>A
NG_008884.2:g.45153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1083G>A MANE Select	ENSP00000272286.2:p.Trp361Ter
ENST00000644611.1:c.1095G>A	ENSP00000495423.1:p.Trp365Ter
ENST00000272286.2:c.1083G>A	ENSP00000272286.2:p.Trp361Ter
NM_022437.2:c.1083G>A	NP_071882.1:p.Trp361Ter
XM_005264483.2:c.1083G>A	XP_005264540.1:p.Trp361Ter
XM_011533029.1:c.1095G>A	XP_011531331.1:p.Trp365Ter
XM_011533030.1:c.1095G>A	XP_011531332.1:p.Trp365Ter
XM_011533031.1:c.867G>A	XP_011531333.1:p.Trp289Ter
XR_939707.1:n.1585G>A
NM_001357321.1:c.1083G>A	NP_001344250.1:p.Trp361Ter
XM_011533029.2:c.1095G>A	XP_011531331.1:p.Trp365Ter
XM_011533030.2:c.1095G>A	XP_011531332.1:p.Trp365Ter
XR_001738891.1:n.1599G>A
XR_939707.2:n.1599G>A
NM_022437.3:c.1083G>A MANE Select	NP_071882.1:p.Trp361Ter
NM_001357321.2:c.1083G>A	NP_001344250.1:p.Trp361Ter