Canonical Allele Identifier: CA399475008
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1425770546
gnomAD v2: 17-39739381-G-T
gnomAD v3: 17-41583129-G-T
gnomAD v4: 17-41583129-G-T
MyVariant Identifiers: chr17:g.39739381G>T (hg19) chr17:g.41583129G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583129G>T , CM000679.2:g.41583129G>T GRCh38
NC_000017.10:g.39739381G>T , CM000679.1:g.39739381G>T GRCh37
NC_000017.9:g.36992907G>T NCBI36
NG_008624.1:g.8767C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1286C>A MANE Select ENSP00000167586.6:p.Ser429Tyr
ENST00000167586.6:c.1286C>A ENSP00000167586.6:p.Ser429Tyr
ENST00000441550.2:n.233C>A
NM_000526.4:c.1286C>A NP_000517.2:p.Ser429Tyr
NM_000526.5:c.1286C>A MANE Select NP_000517.3:p.Ser429Tyr
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