Canonical Allele Identifier: CA8562585
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1945963
ClinVar RCV Id: RCV002667454
dbSNP Id: rs779824101
ExAC: 17:39740065 C / T
gnomAD v2: 17-39740065-C-T
gnomAD v3: 17-41583813-C-T
gnomAD v4: 17-41583813-C-T
MyVariant Identifiers: chr17:g.39740065C>T (hg19) chr17:g.41583813C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583813C>T , CM000679.2:g.41583813C>T GRCh38
NC_000017.10:g.39740065C>T , CM000679.1:g.39740065C>T GRCh37
NC_000017.9:g.36993591C>T NCBI36
NG_008624.1:g.8083G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.874G>A MANE Select ENSP00000167586.6:p.Glu292Lys
ENST00000167586.6:c.874G>A ENSP00000167586.6:p.Glu292Lys
ENST00000476662.1:n.324G>A
NM_000526.4:c.874G>A NP_000517.2:p.Glu292Lys
NM_000526.5:c.874G>A MANE Select NP_000517.3:p.Glu292Lys
Search 100 bp 5'
Search 100 bp 3'