Canonical Allele Identifier: CA346668753

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43871999-C-A
• MyVariant Identifiers: chr2:g.44099138C>A (hg19) ; chr2:g.43871999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43871999C>A , CM000664.2:g.43871999C>A	GRCh38
NC_000002.11:g.44099138C>A , CM000664.1:g.44099138C>A	GRCh37
NC_000002.10:g.43952642C>A	NCBI36
NG_008884.1:g.38036C>A
NG_008884.2:g.45058C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.988C>A MANE Select	ENSP00000272286.2:p.Arg330Ser
ENST00000644611.1:c.1000C>A	ENSP00000495423.1:p.Arg334Ser
ENST00000272286.2:c.988C>A	ENSP00000272286.2:p.Arg330Ser
NM_022437.2:c.988C>A	NP_071882.1:p.Arg330Ser
XM_005264483.2:c.988C>A	XP_005264540.1:p.Arg330Ser
XM_011533029.1:c.1000C>A	XP_011531331.1:p.Arg334Ser
XM_011533030.1:c.1000C>A	XP_011531332.1:p.Arg334Ser
XM_011533031.1:c.772C>A	XP_011531333.1:p.Arg258Ser
XR_939707.1:n.1490C>A
NM_001357321.1:c.988C>A	NP_001344250.1:p.Arg330Ser
XM_011533029.2:c.1000C>A	XP_011531331.1:p.Arg334Ser
XM_011533030.2:c.1000C>A	XP_011531332.1:p.Arg334Ser
XR_001738891.1:n.1504C>A
XR_939707.2:n.1504C>A
NM_022437.3:c.988C>A MANE Select	NP_071882.1:p.Arg330Ser
NM_001357321.2:c.988C>A	NP_001344250.1:p.Arg330Ser