Canonical Allele Identifier: CA2654667676

Gene: ABCG1

Linked Data

• gnomAD v4: 21-42218988-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42218988T>C , CM000683.2:g.42218988T>C	GRCh38
NC_000021.8:g.43639098T>C , CM000683.1:g.43639098T>C	GRCh37
NC_000021.7:g.42512167T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347800.6:c.33+2800T>C	ENSP00000291524.4:n.33+2800T>C
ENST00000398457.6:c.49-6683T>C	ENSP00000381475.2:n.49-6683T>C
ENST00000462050.5:n.227-6683T>C
NM_207627.1:c.49-6683T>C	NP_997510.1:n.49-6683T>C
NM_207628.1:c.-24-6683T>C	NP_997511.1:n.-24-6683T>C
NM_207629.1:c.33+2800T>C	NP_997512.1:n.33+2800T>C
XR_937748.1:n.2744+1162A>G
XR_937748.3:n.5512+1162A>G
NM_207627.2:c.49-6683T>C	NP_997510.1:n.49-6683T>C
NM_207629.2:c.33+2800T>C	NP_997512.1:n.33+2800T>C