Canonical Allele Identifier: CA46475047

Gene: ABCG8

Linked Data

• dbSNP Id: rs536061680
• gnomAD v3: 2-43878007-C-A
• gnomAD v4: 2-43878007-C-A
• MyVariant Identifiers: chr2:g.44105146C>A (hg19) ; chr2:g.43878007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878007C>A , CM000664.2:g.43878007C>A	GRCh38
NC_000002.11:g.44105146C>A , CM000664.1:g.44105146C>A	GRCh37
NC_000002.10:g.43958650C>A	NCBI36
NG_008884.1:g.44044C>A
NG_008884.2:g.51066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*94C>A MANE Select	ENSP00000272286.2:n.*94C>A
ENST00000272286.2:c.*94C>A	ENSP00000272286.2:n.*94C>A
NM_022437.2:c.*94C>A	NP_071882.1:n.*94C>A
XM_005264483.2:c.*94C>A	XP_005264540.1:n.*94C>A
XM_011533029.1:c.*94C>A	XP_011531331.1:n.*94C>A
XM_011533030.1:c.*94C>A	XP_011531332.1:n.*94C>A
XM_011533031.1:c.*94C>A	XP_011531333.1:n.*94C>A
XR_939707.1:n.2618C>A
NM_001357321.1:c.*94C>A	NP_001344250.1:n.*94C>A
XM_011533029.2:c.*94C>A	XP_011531331.1:n.*94C>A
XM_011533030.2:c.*94C>A	XP_011531332.1:n.*94C>A
XR_001738891.1:n.2632C>A
XR_939707.2:n.2632C>A
NM_022437.3:c.*94C>A MANE Select	NP_071882.1:n.*94C>A
NM_001357321.2:c.*94C>A	NP_001344250.1:n.*94C>A