Canonical Allele Identifier: CA290664819
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1055378322
gnomAD v3: 17-41583271-G-A
gnomAD v4: 17-41583271-G-A
MyVariant Identifiers: chr17:g.39739523G>A (hg19) chr17:g.41583271G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583271G>A , CM000679.2:g.41583271G>A GRCh38
NC_000017.10:g.39739523G>A , CM000679.1:g.39739523G>A GRCh37
NC_000017.9:g.36993049G>A NCBI36
NG_008624.1:g.8625C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.1238C>T MANE Select ENSP00000167586.6:p.Ala413Val
ENST00000167586.6:c.1238C>T ENSP00000167586.6:p.Ala413Val
ENST00000441550.2:n.185C>T
ENST00000476662.1:n.688C>T
NM_000526.4:c.1238C>T NP_000517.2:p.Ala413Val
NM_000526.5:c.1238C>T MANE Select NP_000517.3:p.Ala413Val
Search 100 bp 5'
Search 100 bp 3'