Canonical Allele Identifier: CA46434794

Gene: ABCG8

Linked Data

• dbSNP Id: rs141300867
• gnomAD v3: 2-43846303-G-A
• gnomAD v4: 2-43846303-G-A
• MyVariant Identifiers: chr2:g.44073442G>A (hg19) ; chr2:g.43846303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846303G>A , CM000664.2:g.43846303G>A	GRCh38
NC_000002.11:g.44073442G>A , CM000664.1:g.44073442G>A	GRCh37
NC_000002.10:g.43926946G>A	NCBI36
NG_008884.1:g.12340G>A
NG_008884.2:g.19362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.314G>A MANE Select	ENSP00000272286.2:p.Gly105Glu
ENST00000643284.1:n.771G>A
ENST00000644611.1:c.326G>A	ENSP00000495423.1:p.Gly109Glu
ENST00000272286.2:c.314G>A	ENSP00000272286.2:p.Gly105Glu
NM_022437.2:c.314G>A	NP_071882.1:p.Gly105Glu
XM_005264483.2:c.314G>A	XP_005264540.1:p.Gly105Glu
XM_011533029.1:c.326G>A	XP_011531331.1:p.Gly109Glu
XM_011533030.1:c.326G>A	XP_011531332.1:p.Gly109Glu
XM_011533031.1:c.98G>A	XP_011531333.1:p.Gly33Glu
XR_939707.1:n.816G>A
NM_001357321.1:c.314G>A	NP_001344250.1:p.Gly105Glu
XM_011533029.2:c.326G>A	XP_011531331.1:p.Gly109Glu
XM_011533030.2:c.326G>A	XP_011531332.1:p.Gly109Glu
XR_001738891.1:n.830G>A
XR_939707.2:n.830G>A
NM_022437.3:c.314G>A MANE Select	NP_071882.1:p.Gly105Glu
NM_001357321.2:c.314G>A	NP_001344250.1:p.Gly105Glu