Canonical Allele Identifier: CA46470521

Gene: ABCG8

Linked Data

• dbSNP Id: rs1047467162
• gnomAD v4: 2-43875030-C-A
• MyVariant Identifiers: chr2:g.44102169C>A (hg19) ; chr2:g.43875030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875030C>A , CM000664.2:g.43875030C>A	GRCh38
NC_000002.11:g.44102169C>A , CM000664.1:g.44102169C>A	GRCh37
NC_000002.10:g.43955673C>A	NCBI36
NG_008884.1:g.41067C>A
NG_008884.2:g.48089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-116C>A MANE Select	ENSP00000272286.2:n.1489-116C>A
ENST00000272286.2:c.1489-116C>A	ENSP00000272286.2:n.1489-116C>A
NM_022437.2:c.1489-116C>A	NP_071882.1:n.1489-116C>A
XM_005264483.2:c.1486-116C>A	XP_005264540.1:n.1486-116C>A
XM_011533029.1:c.1501-116C>A	XP_011531331.1:n.1501-116C>A
XM_011533030.1:c.1498-116C>A	XP_011531332.1:n.1498-116C>A
XM_011533031.1:c.1273-116C>A	XP_011531333.1:n.1273-116C>A
XR_939707.1:n.1991-116C>A
NM_001357321.1:c.1486-116C>A	NP_001344250.1:n.1486-116C>A
XM_011533029.2:c.1501-116C>A	XP_011531331.1:n.1501-116C>A
XM_011533030.2:c.1498-116C>A	XP_011531332.1:n.1498-116C>A
XR_001738891.1:n.2005-116C>A
XR_939707.2:n.2005-116C>A
NM_022437.3:c.1489-116C>A MANE Select	NP_071882.1:n.1489-116C>A
NM_001357321.2:c.1486-116C>A	NP_001344250.1:n.1486-116C>A