Canonical Allele Identifier: CA1370373
Gene: CR1 HGNC NCBI
ClinVar RCV:
RCV001658412
RCV003975821
ClinVar Variation:
1252113
COSMIC:
COSM3750839
COSM3750840
dbSNP:
6691117
gnomAD v2:
1:207782931 A / G
gnomAD v3:
1:207609586 A / G
gnomAD v4:
chr1-207609586-A-G
Joint Max Group AF 0.78647629 (AFR)
Genomes Max Group AF 0.77552783 (AFR)
Exomes Max Group AF 0.79511984 (AFR)
MyVariant.info:
GRCh38 chr1:g.207609586A>G
GRCh37 chr1:g.207782931A>G
Revel Score:
ENST00000367052 0.090
ENST00000367051 0.090
ENST00000367053 0.090
ENST00000400960 0.090
ENST00000367049 (MANE Select) 0.090
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207609586A>G , CM000663.2:g.207609586A>G GRCh38
NC_000001.10:g.207782931A>G , CM000663.1:g.207782931A>G GRCh37
NC_000001.9:g.205849554A>G NCBI36
NG_007481.1:g.118459A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367049.9:c.6193A>G MANE Select ENSP00000356016.4:p.Ile2065Val
ENST00000367051.6:c.4843A>G ENSP00000356018.1:p.Ile1615Val
ENST00000367052.6:c.4843A>G ENSP00000356019.1:p.Ile1615Val
ENST00000367053.6:c.4843A>G ENSP00000356020.1:p.Ile1615Val
ENST00000400960.7:c.4843A>G ENSP00000383744.2:p.Ile1615Val
ENST00000367049.8:c.6193A>G ENSP00000356016.4:p.Ile2065Val
ENST00000367051.5:c.4843A>G ENSP00000356018.1:p.Ile1615Val
ENST00000367052.5:c.4843A>G ENSP00000356019.1:p.Ile1615Val
ENST00000367053.5:c.4843A>G ENSP00000356020.1:p.Ile1615Val
ENST00000400960.6:c.4843A>G ENSP00000383744.2:p.Ile1615Val
ENST00000529814.1:c.1180-6989A>G
NM_000573.3:c.4843A>G NP_000564.2:p.Ile1615Val
NM_000651.4:c.6193A>G NP_000642.3:p.Ile2065Val
XM_006711166.2:c.6208A>G XP_006711229.1:p.Ile2070Val
XM_011509205.1:c.6208A>G XP_011507507.1:p.Ile2070Val
NM_000651.5:c.6193A>G NP_000642.3:p.Ile2065Val
XM_024453287.1:c.4858A>G XP_024309055.1:p.Ile1620Val
NM_000573.4:c.4843A>G NP_000564.2:p.Ile1615Val
NM_000651.6:c.6193A>G MANE Select NP_000642.3:p.Ile2065Val
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