Canonical Allele Identifier: CA321524384

Gene: ABCG1

Linked Data

• dbSNP Id: rs1002889091
• gnomAD v2: 21-43716832-C-T
• gnomAD v3: 21-42296722-C-T
• gnomAD v4: 21-42296722-C-T
• MyVariant Identifiers: chr21:g.43716832C>T (hg19) ; chr21:g.42296722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42296722C>T , CM000683.2:g.42296722C>T	GRCh38
NC_000021.8:g.43716832C>T , CM000683.1:g.43716832C>T	GRCh37
NC_000021.7:g.42589901C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000398449.8:c.*330C>T MANE Select	ENSP00000381467.3:n.*330C>T
ENST00000343687.7:c.*330C>T	ENSP00000339744.3:n.*330C>T
ENST00000347800.6:c.*330C>T	ENSP00000291524.4:n.*330C>T
ENST00000361802.6:c.*330C>T	ENSP00000354995.2:n.*330C>T
ENST00000398437.1:c.*330C>T	ENSP00000381464.1:n.*330C>T
ENST00000398449.7:c.*330C>T	ENSP00000381467.3:n.*330C>T
ENST00000398457.6:c.*330C>T	ENSP00000381475.2:n.*330C>T
ENST00000462050.5:n.2515C>T
ENST00000472587.5:n.2381C>T
NM_004915.3:c.*330C>T	NP_004906.3:n.*330C>T
NM_016818.2:c.*330C>T	NP_058198.2:n.*330C>T
NM_207174.1:c.*330C>T	NP_997057.1:n.*330C>T
NM_207627.1:c.*330C>T	NP_997510.1:n.*330C>T
NM_207628.1:c.*330C>T	NP_997511.1:n.*330C>T
NM_207629.1:c.*330C>T	NP_997512.1:n.*330C>T
XM_011529806.1:c.*330C>T	XP_011528108.1:n.*330C>T
XM_011529807.1:c.*496C>T	XP_011528109.1:n.*496C>T
XM_011529807.3:c.*496C>T	XP_011528109.1:n.*496C>T
XM_024452141.1:c.*330C>T	XP_024307909.1:n.*330C>T
NM_004915.4:c.*330C>T	NP_004906.3:n.*330C>T
NM_016818.3:c.*330C>T MANE Select	NP_058198.2:n.*330C>T
NM_207627.2:c.*330C>T	NP_997510.1:n.*330C>T
NM_207629.2:c.*330C>T	NP_997512.1:n.*330C>T