Canonical Allele Identifier: CA660322
Gene: CDA HGNC NCBI
COSMIC:
COSM146436 (not active)
MyVariant.info:
GRCh38 chr1:g.20618562C>T
GRCh37 chr1:g.20945055C>T
gnomAD v2:
1:20945055 C / T
gnomAD v3:
1:20618562 C / T
gnomAD v4:
chr1-20618562-C-T
Joint Max Group AF 0.37965444 (AFR)
Genomes Max Group AF 0.37985346 (AFR)
Exomes Max Group AF 0.37593347 (AFR)
dbSNP:
1048977
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20618562C>T , CM000663.2:g.20618562C>T GRCh38
NC_000001.10:g.20945055C>T , CM000663.1:g.20945055C>T GRCh37
NC_000001.9:g.20817642C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375071.4:c.435C>T MANE Select ENSP00000364212.3:p.Thr145=
ENST00000375071.3:c.435C>T ENSP00000364212.3:p.Thr145=
ENST00000461985.1:n.421C>T
NM_001785.2:c.435C>T NP_001776.1:p.Thr145=
NM_001785.3:c.435C>T MANE Select NP_001776.1:p.Thr145=
Search 100 bp 5'
Search 100 bp 3'