Canonical Allele Identifier: CA216823
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 66303
ClinVar RCV Id: RCV000056665 RCV001777147
dbSNP Id: rs61536893
gnomAD v3: 17-41583379-A-G
gnomAD v4: 17-41583379-A-G
MyVariant Identifiers: chr17:g.39739631A>G (hg19) chr17:g.41583379A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583379A>G , CM000679.2:g.41583379A>G GRCh38
NC_000017.10:g.39739631A>G , CM000679.1:g.39739631A>G GRCh37
NC_000017.9:g.36993157A>G NCBI36
NG_008624.1:g.8517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1130T>C MANE Select ENSP00000167586.6:p.Ile377Thr
ENST00000167586.6:c.1130T>C ENSP00000167586.6:p.Ile377Thr
ENST00000441550.2:n.77T>C
ENST00000476662.1:n.580T>C
NM_000526.4:c.1130T>C NP_000517.2:p.Ile377Thr
NM_000526.5:c.1130T>C MANE Select NP_000517.3:p.Ile377Thr
Search 100 bp 5'
Search 100 bp 3'