Canonical Allele Identifier: CA528604781

Gene: CR1

Linked Data

• dbSNP Id: rs1178957165
• gnomAD v2: 1-207804055-T-C
• gnomAD v3: 1-207630710-T-C
• gnomAD v4: 1-207630710-T-C
• MyVariant Identifiers: chr1:g.207804055T>C (hg19) ; chr1:g.207630710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207630710T>C , CM000663.2:g.207630710T>C	GRCh38
NC_000001.10:g.207804055T>C , CM000663.1:g.207804055T>C	GRCh37
NC_000001.9:g.205870678T>C	NCBI36
NG_007481.1:g.139583T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.7457+89T>C MANE Select	ENSP00000356016.4:n.7457+89T>C
ENST00000367051.6:c.6107+89T>C	ENSP00000356018.1:n.6107+89T>C
ENST00000367052.6:c.6107+89T>C	ENSP00000356019.1:n.6107+89T>C
ENST00000367053.6:c.6107+89T>C	ENSP00000356020.1:n.6107+89T>C
ENST00000400960.7:c.6107+89T>C	ENSP00000383744.2:n.6107+89T>C
ENST00000367049.8:c.7457+89T>C	ENSP00000356016.4:n.7457+89T>C
ENST00000367051.5:c.6107+89T>C	ENSP00000356018.1:n.6107+89T>C
ENST00000367052.5:c.6107+89T>C	ENSP00000356019.1:n.6107+89T>C
ENST00000367053.5:c.6107+89T>C	ENSP00000356020.1:n.6107+89T>C
ENST00000400960.6:c.6107+89T>C	ENSP00000383744.2:n.6107+89T>C
NM_000573.3:c.6107+89T>C	NP_000564.2:n.6107+89T>C
NM_000651.4:c.7457+89T>C	NP_000642.3:n.7457+89T>C
XM_006711166.2:c.7367+7642T>C	XP_006711229.1:n.7367+7642T>C
XM_011509205.1:c.7472+89T>C	XP_011507507.1:n.7472+89T>C
NM_000651.5:c.7457+89T>C	NP_000642.3:n.7457+89T>C
XM_024453287.1:c.6122+89T>C	XP_024309055.1:n.6122+89T>C
NM_000573.4:c.6107+89T>C	NP_000564.2:n.6107+89T>C
NM_000651.6:c.7457+89T>C MANE Select	NP_000642.3:n.7457+89T>C