Canonical Allele Identifier: CA36659520

Gene: CR1

Linked Data

• dbSNP Id: rs1408077
• gnomAD v2: 1-207804141-A-C
• gnomAD v3: 1-207630796-A-C
• gnomAD v4: 1-207630796-A-C
• MyVariant Identifiers: chr1:g.207804141A>C (hg19) ; chr1:g.207630796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207630796A>C , CM000663.2:g.207630796A>C	GRCh38
NC_000001.10:g.207804141A>C , CM000663.1:g.207804141A>C	GRCh37
NC_000001.9:g.205870764A>C	NCBI36
NG_007481.1:g.139669A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.7457+175A>C MANE Select	ENSP00000356016.4:n.7457+175A>C
ENST00000367051.6:c.6107+175A>C	ENSP00000356018.1:n.6107+175A>C
ENST00000367052.6:c.6107+175A>C	ENSP00000356019.1:n.6107+175A>C
ENST00000367053.6:c.6107+175A>C	ENSP00000356020.1:n.6107+175A>C
ENST00000400960.7:c.6107+175A>C	ENSP00000383744.2:n.6107+175A>C
ENST00000367049.8:c.7457+175A>C	ENSP00000356016.4:n.7457+175A>C
ENST00000367051.5:c.6107+175A>C	ENSP00000356018.1:n.6107+175A>C
ENST00000367052.5:c.6107+175A>C	ENSP00000356019.1:n.6107+175A>C
ENST00000367053.5:c.6107+175A>C	ENSP00000356020.1:n.6107+175A>C
ENST00000400960.6:c.6107+175A>C	ENSP00000383744.2:n.6107+175A>C
NM_000573.3:c.6107+175A>C	NP_000564.2:n.6107+175A>C
NM_000651.4:c.7457+175A>C	NP_000642.3:n.7457+175A>C
XM_006711166.2:c.7367+7728A>C	XP_006711229.1:n.7367+7728A>C
XM_011509205.1:c.7472+175A>C	XP_011507507.1:n.7472+175A>C
NM_000651.5:c.7457+175A>C	NP_000642.3:n.7457+175A>C
XM_024453287.1:c.6122+175A>C	XP_024309055.1:n.6122+175A>C
NM_000573.4:c.6107+175A>C	NP_000564.2:n.6107+175A>C
NM_000651.6:c.7457+175A>C MANE Select	NP_000642.3:n.7457+175A>C