Canonical Allele Identifier: CA399483678
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1299888635
gnomAD v2: 17-39743016-A-G
MyVariant Identifiers: chr17:g.39743016A>G (hg19) chr17:g.41586764A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586764A>G , CM000679.2:g.41586764A>G GRCh38
NC_000017.10:g.39743016A>G , CM000679.1:g.39743016A>G GRCh37
NC_000017.9:g.36996542A>G NCBI36
NG_008624.1:g.5132T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.71T>C MANE Select ENSP00000167586.6:p.Ile24Thr
ENST00000167586.6:c.71T>C ENSP00000167586.6:p.Ile24Thr
NM_000526.4:c.71T>C NP_000517.2:p.Ile24Thr
NM_000526.5:c.71T>C MANE Select NP_000517.3:p.Ile24Thr
Search 100 bp 5'
Search 100 bp 3'