Canonical Allele Identifier: CA290664852
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs758942543
gnomAD v2: 17-39739590-T-C
gnomAD v4: 17-41583338-T-C
MyVariant Identifiers: chr17:g.39739590T>C (hg19) chr17:g.41583338T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583338T>C , CM000679.2:g.41583338T>C GRCh38
NC_000017.10:g.39739590T>C , CM000679.1:g.39739590T>C GRCh37
NC_000017.9:g.36993116T>C NCBI36
NG_008624.1:g.8558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1171A>G MANE Select ENSP00000167586.6:p.Met391Val
ENST00000167586.6:c.1171A>G ENSP00000167586.6:p.Met391Val
ENST00000441550.2:n.118A>G
ENST00000476662.1:n.621A>G
NM_000526.4:c.1171A>G NP_000517.2:p.Met391Val
NM_000526.5:c.1171A>G MANE Select NP_000517.3:p.Met391Val
Search 100 bp 5'
Search 100 bp 3'