Canonical Allele Identifier: CA321512498

Gene: ABCG1

Linked Data

• dbSNP Id: rs959290545
• gnomAD v3: 21-42218950-C-T
• gnomAD v4: 21-42218950-C-T
• MyVariant Identifiers: chr21:g.43639060C>T (hg19) ; chr21:g.42218950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42218950C>T , CM000683.2:g.42218950C>T	GRCh38
NC_000021.8:g.43639060C>T , CM000683.1:g.43639060C>T	GRCh37
NC_000021.7:g.42512129C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347800.6:c.33+2762C>T	ENSP00000291524.4:n.33+2762C>T
ENST00000398457.6:c.49-6721C>T	ENSP00000381475.2:n.49-6721C>T
ENST00000462050.5:n.227-6721C>T
NM_207627.1:c.49-6721C>T	NP_997510.1:n.49-6721C>T
NM_207628.1:c.-24-6721C>T	NP_997511.1:n.-24-6721C>T
NM_207629.1:c.33+2762C>T	NP_997512.1:n.33+2762C>T
XR_937748.1:n.2744+1200G>A
XR_937748.3:n.5512+1200G>A
NM_207627.2:c.49-6721C>T	NP_997510.1:n.49-6721C>T
NM_207629.2:c.33+2762C>T	NP_997512.1:n.33+2762C>T