Canonical Allele Identifier: CA216921
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 14613
ClinVar RCV Id: RCV000015717 RCV000056718 RCV003137528 RCV003407339
dbSNP Id: rs58330629
gnomAD v4: 17-41586461-C-T
MyVariant Identifiers: chr17:g.39742713C>T (hg19) chr17:g.41586461C>T (hg38)
PubMed: PMID:1717157 PMID:10730767 PMID:20301543
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586461C>T , CM000679.2:g.41586461C>T GRCh38
NC_000017.10:g.39742713C>T , CM000679.1:g.39742713C>T GRCh37
NC_000017.9:g.36996239C>T NCBI36
NG_008624.1:g.5435G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.374G>A MANE Select ENSP00000167586.6:p.Arg125His
ENST00000167586.6:c.374G>A ENSP00000167586.6:p.Arg125His
NM_000526.4:c.374G>A NP_000517.2:p.Arg125His
NM_000526.5:c.374G>A MANE Select NP_000517.3:p.Arg125His
Search 100 bp 5'
Search 100 bp 3'