Canonical Allele Identifier: CA8562840
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2715248
ClinVar RCV Id: RCV003553203
dbSNP Id: rs760882737
ExAC: 17:39743070 C / T
gnomAD v2: 17-39743070-C-T
gnomAD v3: 17-41586818-C-T
gnomAD v4: 17-41586818-C-T
MyVariant Identifiers: chr17:g.39743070C>T (hg19) chr17:g.41586818C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586818C>T , CM000679.2:g.41586818C>T GRCh38
NC_000017.10:g.39743070C>T , CM000679.1:g.39743070C>T GRCh37
NC_000017.9:g.36996596C>T NCBI36
NG_008624.1:g.5078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.17G>A MANE Select ENSP00000167586.6:p.Arg6His
ENST00000167586.6:c.17G>A ENSP00000167586.6:p.Arg6His
NM_000526.4:c.17G>A NP_000517.2:p.Arg6His
NM_000526.5:c.17G>A MANE Select NP_000517.3:p.Arg6His
Search 100 bp 5'
Search 100 bp 3'