Canonical Allele Identifier: CA8562649
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590261
ClinVar RCV Id: RCV002119594
dbSNP Id: rs75795684
ExAC: 17:39740629 T / C
gnomAD v2: 17-39740629-T-C
gnomAD v3: 17-41584377-T-C
gnomAD v4: 17-41584377-T-C
MyVariant Identifiers: chr17:g.39740629T>C (hg19) chr17:g.41584377T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41584377T>C , CM000679.2:g.41584377T>C GRCh38
NC_000017.10:g.39740629T>C , CM000679.1:g.39740629T>C GRCh37
NC_000017.9:g.36994155T>C NCBI36
NG_008624.1:g.7519A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.645A>G MANE Select ENSP00000167586.6:p.Glu215=
ENST00000167586.6:c.645A>G ENSP00000167586.6:p.Glu215=
ENST00000476662.1:n.95A>G
NM_000526.4:c.645A>G NP_000517.2:p.Glu215=
NM_000526.5:c.645A>G MANE Select NP_000517.3:p.Glu215=
Search 100 bp 5'
Search 100 bp 3'