Canonical Allele Identifier: CA346671295

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877816-C-A
• MyVariant Identifiers: chr2:g.44104955C>A (hg19) ; chr2:g.43877816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877816C>A , CM000664.2:g.43877816C>A	GRCh38
NC_000002.11:g.44104955C>A , CM000664.1:g.44104955C>A	GRCh37
NC_000002.10:g.43958459C>A	NCBI36
NG_008884.1:g.43853C>A
NG_008884.2:g.50875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1925C>A MANE Select	ENSP00000272286.2:p.Ala642Asp
ENST00000272286.2:c.1925C>A	ENSP00000272286.2:p.Ala642Asp
NM_022437.2:c.1925C>A	NP_071882.1:p.Ala642Asp
XM_005264483.2:c.1922C>A	XP_005264540.1:p.Ala641Asp
XM_011533029.1:c.1937C>A	XP_011531331.1:p.Ala646Asp
XM_011533030.1:c.1934C>A	XP_011531332.1:p.Ala645Asp
XM_011533031.1:c.1709C>A	XP_011531333.1:p.Ala570Asp
XR_939707.1:n.2427C>A
NM_001357321.1:c.1922C>A	NP_001344250.1:p.Ala641Asp
XM_011533029.2:c.1937C>A	XP_011531331.1:p.Ala646Asp
XM_011533030.2:c.1934C>A	XP_011531332.1:p.Ala645Asp
XR_001738891.1:n.2441C>A
XR_939707.2:n.2441C>A
NM_022437.3:c.1925C>A MANE Select	NP_071882.1:p.Ala642Asp
NM_001357321.2:c.1922C>A	NP_001344250.1:p.Ala641Asp