Canonical Allele Identifier: CA338849314
Gene: CDA HGNC NCBI

Linked Data

dbSNP Id: rs2052841099
gnomAD v3: 1-20618565-G-T
gnomAD v4: 1-20618565-G-T
MyVariant Identifiers: chr1:g.20945058G>T (hg19) chr1:g.20618565G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20618565G>T , CM000663.2:g.20618565G>T GRCh38
NC_000001.10:g.20945058G>T , CM000663.1:g.20945058G>T GRCh37
NC_000001.9:g.20817645G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375071.4:c.438G>T MANE Select ENSP00000364212.3:p.Gln146His
ENST00000375071.3:c.438G>T ENSP00000364212.3:p.Gln146His
ENST00000461985.1:n.424G>T
NM_001785.2:c.438G>T NP_001776.1:p.Gln146His
NM_001785.3:c.438G>T MANE Select NP_001776.1:p.Gln146His
Search 100 bp 5'
Search 100 bp 3'