Canonical Allele Identifier: CA1370286

Gene: CR1

Linked Data

• ClinVar Variation Id: 445843
• ClinVar RCV Id: RCV000514722 ; RCV002490872
• dbSNP Id: rs115988205
• ExAC: 1:207780585 C / A
• gnomAD v2: 1-207780585-C-A
• gnomAD v3: 1-207607240-C-A
• gnomAD v4: 1-207607240-C-A
• MyVariant Identifiers: chr1:g.207780585C>A (hg19) ; chr1:g.207607240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207607240C>A , CM000663.2:g.207607240C>A	GRCh38
NC_000001.10:g.207780585C>A , CM000663.1:g.207780585C>A	GRCh37
NC_000001.9:g.205847208C>A	NCBI36
NG_007481.1:g.116113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.5811-11C>A MANE Select	ENSP00000356016.4:n.5811-11C>A
ENST00000367051.6:c.4461-11C>A	ENSP00000356018.1:n.4461-11C>A
ENST00000367052.6:c.4461-11C>A	ENSP00000356019.1:n.4461-11C>A
ENST00000367053.6:c.4461-11C>A	ENSP00000356020.1:n.4461-11C>A
ENST00000400960.7:c.4461-11C>A	ENSP00000383744.2:n.4461-11C>A
ENST00000367049.8:c.5811-11C>A	ENSP00000356016.4:n.5811-11C>A
ENST00000367051.5:c.4461-11C>A	ENSP00000356018.1:n.4461-11C>A
ENST00000367052.5:c.4461-11C>A	ENSP00000356019.1:n.4461-11C>A
ENST00000367053.5:c.4461-11C>A	ENSP00000356020.1:n.4461-11C>A
ENST00000400960.6:c.4461-11C>A	ENSP00000383744.2:n.4461-11C>A
ENST00000529814.1:c.1180-9335C>A
ENST00000534202.5:c.*1576-11C>A	ENSP00000436139.2:n.*1576-11C>A
NM_000573.3:c.4461-11C>A	NP_000564.2:n.4461-11C>A
NM_000651.4:c.5811-11C>A	NP_000642.3:n.5811-11C>A
XM_006711166.2:c.5826-11C>A	XP_006711229.1:n.5826-11C>A
XM_011509205.1:c.5826-11C>A	XP_011507507.1:n.5826-11C>A
NM_000651.5:c.5811-11C>A	NP_000642.3:n.5811-11C>A
XM_024453287.1:c.4476-11C>A	XP_024309055.1:n.4476-11C>A
NM_000573.4:c.4461-11C>A	NP_000564.2:n.4461-11C>A
NM_000651.6:c.5811-11C>A MANE Select	NP_000642.3:n.5811-11C>A