Canonical Allele Identifier: CA399478232
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1436764481
gnomAD v2: 17-39740588-G-A
gnomAD v4: 17-41584336-G-A
MyVariant Identifiers: chr17:g.39740588G>A (hg19) chr17:g.41584336G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41584336G>A , CM000679.2:g.41584336G>A GRCh38
NC_000017.10:g.39740588G>A , CM000679.1:g.39740588G>A GRCh37
NC_000017.9:g.36994114G>A NCBI36
NG_008624.1:g.7560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.686C>T MANE Select ENSP00000167586.6:p.Thr229Ile
ENST00000167586.6:c.686C>T ENSP00000167586.6:p.Thr229Ile
ENST00000476662.1:n.136C>T
NM_000526.4:c.686C>T NP_000517.2:p.Thr229Ile
NM_000526.5:c.686C>T MANE Select NP_000517.3:p.Thr229Ile
Search 100 bp 5'
Search 100 bp 3'