Canonical Allele Identifier: CA8562416
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2279838
ClinVar RCV Id: RCV002813956 RCV003730286
dbSNP Id: rs149391578
ExAC: 17:39739363 G / A
gnomAD v2: 17-39739363-G-A
gnomAD v3: 17-41583111-G-A
gnomAD v4: 17-41583111-G-A
COSMIC: COSM5386350
MyVariant Identifiers: chr17:g.39739363G>A (hg19) chr17:g.41583111G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583111G>A , CM000679.2:g.41583111G>A GRCh38
NC_000017.10:g.39739363G>A , CM000679.1:g.39739363G>A GRCh37
NC_000017.9:g.36992889G>A NCBI36
NG_008624.1:g.8785C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1304C>T MANE Select ENSP00000167586.6:p.Ser435Leu
ENST00000167586.6:c.1304C>T ENSP00000167586.6:p.Ser435Leu
ENST00000441550.2:n.251C>T
NM_000526.4:c.1304C>T NP_000517.2:p.Ser435Leu
NM_000526.5:c.1304C>T MANE Select NP_000517.3:p.Ser435Leu
Search 100 bp 5'
Search 100 bp 3'