Canonical Allele Identifier: CA2654674610

Gene: ABCG1

Linked Data

• gnomAD v4: 21-42296700-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42296700T>C , CM000683.2:g.42296700T>C	GRCh38
NC_000021.8:g.43716810T>C , CM000683.1:g.43716810T>C	GRCh37
NC_000021.7:g.42589879T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000398449.8:c.*308T>C MANE Select	ENSP00000381467.3:n.*308T>C
ENST00000343687.7:c.*308T>C	ENSP00000339744.3:n.*308T>C
ENST00000347800.6:c.*308T>C	ENSP00000291524.4:n.*308T>C
ENST00000361802.6:c.*308T>C	ENSP00000354995.2:n.*308T>C
ENST00000398437.1:c.*308T>C	ENSP00000381464.1:n.*308T>C
ENST00000398449.7:c.*308T>C	ENSP00000381467.3:n.*308T>C
ENST00000398457.6:c.*308T>C	ENSP00000381475.2:n.*308T>C
ENST00000462050.5:n.2493T>C
ENST00000472587.5:n.2359T>C
NM_004915.3:c.*308T>C	NP_004906.3:n.*308T>C
NM_016818.2:c.*308T>C	NP_058198.2:n.*308T>C
NM_207174.1:c.*308T>C	NP_997057.1:n.*308T>C
NM_207627.1:c.*308T>C	NP_997510.1:n.*308T>C
NM_207628.1:c.*308T>C	NP_997511.1:n.*308T>C
NM_207629.1:c.*308T>C	NP_997512.1:n.*308T>C
XM_011529806.1:c.*308T>C	XP_011528108.1:n.*308T>C
XM_011529807.1:c.*474T>C	XP_011528109.1:n.*474T>C
XM_011529807.3:c.*474T>C	XP_011528109.1:n.*474T>C
XM_024452141.1:c.*308T>C	XP_024307909.1:n.*308T>C
NM_004915.4:c.*308T>C	NP_004906.3:n.*308T>C
NM_016818.3:c.*308T>C MANE Select	NP_058198.2:n.*308T>C
NM_207627.2:c.*308T>C	NP_997510.1:n.*308T>C
NM_207629.2:c.*308T>C	NP_997512.1:n.*308T>C