Canonical Allele Identifier: CA399476407
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1233144309
gnomAD v2: 17-39739826-C-T
gnomAD v4: 17-41583574-C-T
MyVariant Identifiers: chr17:g.39739826C>T (hg19) chr17:g.41583574C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583574C>T , CM000679.2:g.41583574C>T GRCh38
NC_000017.10:g.39739826C>T , CM000679.1:g.39739826C>T GRCh37
NC_000017.9:g.36993352C>T NCBI36
NG_008624.1:g.8322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1030G>A MANE Select ENSP00000167586.6:p.Glu344Lys
ENST00000167586.6:c.1030G>A ENSP00000167586.6:p.Glu344Lys
ENST00000476662.1:n.480G>A
NM_000526.4:c.1030G>A NP_000517.2:p.Glu344Lys
NM_000526.5:c.1030G>A MANE Select NP_000517.3:p.Glu344Lys
Search 100 bp 5'
Search 100 bp 3'