Canonical Allele Identifier: CA8562657
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039144
ClinVar RCV Id: RCV002907808
dbSNP Id: rs188343094
ExAC: 17:39740647 G / A
gnomAD v2: 17-39740647-G-A
gnomAD v3: 17-41584395-G-A
gnomAD v4: 17-41584395-G-A
MyVariant Identifiers: chr17:g.39740647G>A (hg19) chr17:g.41584395G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41584395G>A , CM000679.2:g.41584395G>A GRCh38
NC_000017.10:g.39740647G>A , CM000679.1:g.39740647G>A GRCh37
NC_000017.9:g.36994173G>A NCBI36
NG_008624.1:g.7501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.627C>T MANE Select ENSP00000167586.6:p.Asn209=
ENST00000167586.6:c.627C>T ENSP00000167586.6:p.Asn209=
ENST00000476662.1:n.77C>T
NM_000526.4:c.627C>T NP_000517.2:p.Asn209=
NM_000526.5:c.627C>T MANE Select NP_000517.3:p.Asn209=
Search 100 bp 5'
Search 100 bp 3'