Canonical Allele Identifier: CA8562473
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 452364
ClinVar RCV Id: RCV000518885
dbSNP Id: rs767154712
ExAC: 17:39739541 C / T
gnomAD v2: 17-39739541-C-T
gnomAD v4: 17-41583289-C-T
MyVariant Identifiers: chr17:g.39739541C>T (hg19) chr17:g.41583289C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583289C>T , CM000679.2:g.41583289C>T GRCh38
NC_000017.10:g.39739541C>T , CM000679.1:g.39739541C>T GRCh37
NC_000017.9:g.36993067C>T NCBI36
NG_008624.1:g.8607G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1220G>A MANE Select ENSP00000167586.6:p.Arg407Gln
ENST00000167586.6:c.1220G>A ENSP00000167586.6:p.Arg407Gln
ENST00000441550.2:n.167G>A
ENST00000476662.1:n.670G>A
NM_000526.4:c.1220G>A NP_000517.2:p.Arg407Gln
NM_000526.5:c.1220G>A MANE Select NP_000517.3:p.Arg407Gln
Search 100 bp 5'
Search 100 bp 3'