Canonical Allele Identifier: CA399483601
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1972666
ClinVar RCV Id: RCV002730685
dbSNP Id: rs756137651
gnomAD v3: 17-41586746-C-A
gnomAD v4: 17-41586746-C-A
MyVariant Identifiers: chr17:g.39742998C>A (hg19) chr17:g.41586746C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586746C>A , CM000679.2:g.41586746C>A GRCh38
NC_000017.10:g.39742998C>A , CM000679.1:g.39742998C>A GRCh37
NC_000017.9:g.36996524C>A NCBI36
NG_008624.1:g.5150G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.89G>T MANE Select ENSP00000167586.6:p.Arg30Leu
ENST00000167586.6:c.89G>T ENSP00000167586.6:p.Arg30Leu
NM_000526.4:c.89G>T NP_000517.2:p.Arg30Leu
NM_000526.5:c.89G>T MANE Select NP_000517.3:p.Arg30Leu
Search 100 bp 5'
Search 100 bp 3'