Canonical Allele Identifier: CA8562546
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs151161753
ExAC: 17:39739867 T / G
gnomAD v2: 17-39739867-T-G
gnomAD v4: 17-41583615-T-G
MyVariant Identifiers: chr17:g.39739867T>G (hg19) chr17:g.41583615T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583615T>G , CM000679.2:g.41583615T>G GRCh38
NC_000017.10:g.39739867T>G , CM000679.1:g.39739867T>G GRCh37
NC_000017.9:g.36993393T>G NCBI36
NG_008624.1:g.8281A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.989A>C MANE Select ENSP00000167586.6:p.Glu330Ala
ENST00000167586.6:c.989A>C ENSP00000167586.6:p.Glu330Ala
ENST00000476662.1:n.439A>C
NM_000526.4:c.989A>C NP_000517.2:p.Glu330Ala
NM_000526.5:c.989A>C MANE Select NP_000517.3:p.Glu330Ala
Search 100 bp 5'
Search 100 bp 3'