Canonical Allele Identifier: CA423140219

Gene: CR1

Linked Data

• gnomAD v4: 1-207580277-T-C
• MyVariant Identifiers: chr1:g.207753622T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580277T>C , CM000663.2:g.207580277T>C	GRCh38
NC_000001.10:g.207753622T>C , CM000663.1:g.207753622T>C	GRCh37
NC_000001.9:g.205820245T>C	NCBI36
NG_007481.1:g.89150T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.4974T>C MANE Select	ENSP00000356016.4:p.His1658=
ENST00000367051.6:c.3624T>C	ENSP00000356018.1:p.His1208=
ENST00000367052.6:c.3624T>C	ENSP00000356019.1:p.His1208=
ENST00000367053.6:c.3624T>C	ENSP00000356020.1:p.His1208=
ENST00000400960.7:c.3624T>C	ENSP00000383744.2:p.His1208=
ENST00000367049.8:c.4974T>C	ENSP00000356016.4:p.His1658=
ENST00000367051.5:c.3624T>C	ENSP00000356018.1:p.His1208=
ENST00000367052.5:c.3624T>C	ENSP00000356019.1:p.His1208=
ENST00000367053.5:c.3624T>C	ENSP00000356020.1:p.His1208=
ENST00000400960.6:c.3624T>C	ENSP00000383744.2:p.His1208=
ENST00000529814.1:c.1179+14354T>C
ENST00000534202.5:c.*739T>C	ENSP00000436139.2:n.*739T>C
NM_000573.3:c.3624T>C	NP_000564.2:p.His1208=
NM_000651.4:c.4974T>C	NP_000642.3:p.His1658=
XM_006711166.2:c.4989T>C	XP_006711229.1:p.His1663=
XM_011509205.1:c.4989T>C	XP_011507507.1:p.His1663=
NM_000651.5:c.4974T>C	NP_000642.3:p.His1658=
XM_024453287.1:c.3639T>C	XP_024309055.1:p.His1213=
NM_000573.4:c.3624T>C	NP_000564.2:p.His1208=
NM_000651.6:c.4974T>C MANE Select	NP_000642.3:p.His1658=