Canonical Allele Identifier: CA660240
Gene: CDA HGNC NCBI
COSMIC:
COSM4599474 (not active)
MyVariant.info:
GRCh38 chr1:g.20604981G>A
GRCh37 chr1:g.20931474G>A
Revel Score:
ENST00000375071 (MANE Select) 0.722
gnomAD v2:
1:20931474 G / A
gnomAD v3:
1:20604981 G / A
gnomAD v4:
chr1-20604981-G-A
Joint Max Group AF 0.01509747 (EAS)
Genomes Max Group AF 0.00533081 (EAS)
Exomes Max Group AF 0.01616313 (EAS)
dbSNP:
60369023
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20604981G>A , CM000663.2:g.20604981G>A GRCh38
NC_000001.10:g.20931474G>A , CM000663.1:g.20931474G>A GRCh37
NC_000001.9:g.20804061G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375071.4:c.208G>A MANE Select ENSP00000364212.3:p.Ala70Thr
ENST00000375071.3:c.208G>A ENSP00000364212.3:p.Ala70Thr
ENST00000461985.1:n.252G>A
NM_001785.2:c.208G>A NP_001776.1:p.Ala70Thr
NM_001785.3:c.208G>A MANE Select NP_001776.1:p.Ala70Thr
Search 100 bp 5'
Search 100 bp 3'