Canonical Allele Identifier: CA399475681
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1312659715
gnomAD v3: 17-41583336-C-T
gnomAD v4: 17-41583336-C-T
MyVariant Identifiers: chr17:g.39739588C>T (hg19) chr17:g.41583336C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583336C>T , CM000679.2:g.41583336C>T GRCh38
NC_000017.10:g.39739588C>T , CM000679.1:g.39739588C>T GRCh37
NC_000017.9:g.36993114C>T NCBI36
NG_008624.1:g.8560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1173G>A MANE Select ENSP00000167586.6:p.Met391Ile
ENST00000167586.6:c.1173G>A ENSP00000167586.6:p.Met391Ile
ENST00000441550.2:n.120G>A
ENST00000476662.1:n.623G>A
NM_000526.4:c.1173G>A NP_000517.2:p.Met391Ile
NM_000526.5:c.1173G>A MANE Select NP_000517.3:p.Met391Ile
Search 100 bp 5'
Search 100 bp 3'