Canonical Allele Identifier: CA8562550
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2959983
ClinVar RCV Id: RCV003814743
dbSNP Id: rs779719854
ExAC: 17:39739878 G / A
gnomAD v2: 17-39739878-G-A
gnomAD v3: 17-41583626-G-A
gnomAD v4: 17-41583626-G-A
MyVariant Identifiers: chr17:g.39739878G>A (hg19) chr17:g.41583626G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583626G>A , CM000679.2:g.41583626G>A GRCh38
NC_000017.10:g.39739878G>A , CM000679.1:g.39739878G>A GRCh37
NC_000017.9:g.36993404G>A NCBI36
NG_008624.1:g.8270C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.978C>T MANE Select ENSP00000167586.6:p.Ser326=
ENST00000167586.6:c.978C>T ENSP00000167586.6:p.Ser326=
ENST00000476662.1:n.428C>T
NM_000526.4:c.978C>T NP_000517.2:p.Ser326=
NM_000526.5:c.978C>T MANE Select NP_000517.3:p.Ser326=
Search 100 bp 5'
Search 100 bp 3'