Canonical Allele Identifier: CA8562543
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 3054745
ClinVar RCV Id: RCV003969642
dbSNP Id: rs375184541
ExAC: 17:39739860 C / T
gnomAD v2: 17-39739860-C-T
gnomAD v3: 17-41583608-C-T
gnomAD v4: 17-41583608-C-T
MyVariant Identifiers: chr17:g.39739860C>T (hg19) chr17:g.41583608C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583608C>T , CM000679.2:g.41583608C>T GRCh38
NC_000017.10:g.39739860C>T , CM000679.1:g.39739860C>T GRCh37
NC_000017.9:g.36993386C>T NCBI36
NG_008624.1:g.8288G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.996G>A MANE Select ENSP00000167586.6:p.Ser332=
ENST00000167586.6:c.996G>A ENSP00000167586.6:p.Ser332=
ENST00000476662.1:n.446G>A
NM_000526.4:c.996G>A NP_000517.2:p.Ser332=
NM_000526.5:c.996G>A MANE Select NP_000517.3:p.Ser332=
Search 100 bp 5'
Search 100 bp 3'