Canonical Allele Identifier: CA660201
Gene: CDA HGNC NCBI
COSMIC:
COSM3750847 (not active)
MyVariant.info:
GRCh38 chr1:g.20589208A>C
GRCh37 chr1:g.20915701A>C
Revel Score:
ENST00000375071 (MANE Select) 0.055
gnomAD v2:
1:20915701 A / C
gnomAD v3:
1:20589208 A / C
gnomAD v4:
chr1-20589208-A-C
Joint Max Group AF 0.36320865 (MID)
Genomes Max Group AF 0.33404049 (NFE)
Exomes Max Group AF 0.36200598 (MID)
dbSNP:
2072671
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20589208A>C , CM000663.2:g.20589208A>C GRCh38
NC_000001.10:g.20915701A>C , CM000663.1:g.20915701A>C GRCh37
NC_000001.9:g.20788288A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375071.4:c.79A>C MANE Select ENSP00000364212.3:p.Lys27Gln
ENST00000375071.3:c.79A>C ENSP00000364212.3:p.Lys27Gln
ENST00000461985.1:n.123A>C
NM_001785.2:c.79A>C NP_001776.1:p.Lys27Gln
NM_001785.3:c.79A>C MANE Select NP_001776.1:p.Lys27Gln
Search 100 bp 5'
Search 100 bp 3'