Canonical Allele Identifier: CA8562813
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171249
ClinVar RCV Id: RCV003088814 RCV003095715
dbSNP Id: rs566001198
ExAC: 17:39742965 C / T
gnomAD v2: 17-39742965-C-T
gnomAD v3: 17-41586713-C-T
gnomAD v4: 17-41586713-C-T
COSMIC: COSM148271
MyVariant Identifiers: chr17:g.39742965C>T (hg19) chr17:g.41586713C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586713C>T , CM000679.2:g.41586713C>T GRCh38
NC_000017.10:g.39742965C>T , CM000679.1:g.39742965C>T GRCh37
NC_000017.9:g.36996491C>T NCBI36
NG_008624.1:g.5183G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.122G>A MANE Select ENSP00000167586.6:p.Arg41His
ENST00000167586.6:c.122G>A ENSP00000167586.6:p.Arg41His
NM_000526.4:c.122G>A NP_000517.2:p.Arg41His
NM_000526.5:c.122G>A MANE Select NP_000517.3:p.Arg41His
Search 100 bp 5'
Search 100 bp 3'