Canonical Allele Identifier: CA344534919

Gene: CR1

Linked Data

• dbSNP Id: rs1660892545
• gnomAD v3: 1-207580292-G-C
• gnomAD v4: 1-207580292-G-C
• MyVariant Identifiers: chr1:g.207753637G>C (hg19) ; chr1:g.207580292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580292G>C , CM000663.2:g.207580292G>C	GRCh38
NC_000001.10:g.207753637G>C , CM000663.1:g.207753637G>C	GRCh37
NC_000001.9:g.205820260G>C	NCBI36
NG_007481.1:g.89165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.4989G>C MANE Select	ENSP00000356016.4:p.Gln1663His
ENST00000367051.6:c.3639G>C	ENSP00000356018.1:p.Gln1213His
ENST00000367052.6:c.3639G>C	ENSP00000356019.1:p.Gln1213His
ENST00000367053.6:c.3639G>C	ENSP00000356020.1:p.Gln1213His
ENST00000400960.7:c.3639G>C	ENSP00000383744.2:p.Gln1213His
ENST00000367049.8:c.4989G>C	ENSP00000356016.4:p.Gln1663His
ENST00000367051.5:c.3639G>C	ENSP00000356018.1:p.Gln1213His
ENST00000367052.5:c.3639G>C	ENSP00000356019.1:p.Gln1213His
ENST00000367053.5:c.3639G>C	ENSP00000356020.1:p.Gln1213His
ENST00000400960.6:c.3639G>C	ENSP00000383744.2:p.Gln1213His
ENST00000529814.1:c.1179+14369G>C
ENST00000534202.5:c.*754G>C	ENSP00000436139.2:n.*754G>C
NM_000573.3:c.3639G>C	NP_000564.2:p.Gln1213His
NM_000651.4:c.4989G>C	NP_000642.3:p.Gln1663His
XM_006711166.2:c.5004G>C	XP_006711229.1:p.Gln1668His
XM_011509205.1:c.5004G>C	XP_011507507.1:p.Gln1668His
NM_000651.5:c.4989G>C	NP_000642.3:p.Gln1663His
XM_024453287.1:c.3654G>C	XP_024309055.1:p.Gln1218His
NM_000573.4:c.3639G>C	NP_000564.2:p.Gln1213His
NM_000651.6:c.4989G>C MANE Select	NP_000642.3:p.Gln1663His