Canonical Allele Identifier: CA8562810
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2037530
ClinVar RCV Id: RCV002885835
dbSNP Id: rs201931536
ExAC: 17:39742953 G / A
gnomAD v2: 17-39742953-G-A
gnomAD v3: 17-41586701-G-A
gnomAD v4: 17-41586701-G-A
MyVariant Identifiers: chr17:g.39742953G>A (hg19) chr17:g.41586701G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586701G>A , CM000679.2:g.41586701G>A GRCh38
NC_000017.10:g.39742953G>A , CM000679.1:g.39742953G>A GRCh37
NC_000017.9:g.36996479G>A NCBI36
NG_008624.1:g.5195C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.134C>T MANE Select ENSP00000167586.6:p.Thr45Ile
ENST00000167586.6:c.134C>T ENSP00000167586.6:p.Thr45Ile
NM_000526.4:c.134C>T NP_000517.2:p.Thr45Ile
NM_000526.5:c.134C>T MANE Select NP_000517.3:p.Thr45Ile
Search 100 bp 5'
Search 100 bp 3'