Canonical Allele Identifier: CA500205082
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1474294583
gnomAD v2: 17-39739374-G-A
gnomAD v4: 17-41583122-G-A
MyVariant Identifiers: chr17:g.39739374G>A (hg19) chr17:g.41583122G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583122G>A , CM000679.2:g.41583122G>A GRCh38
NC_000017.10:g.39739374G>A , CM000679.1:g.39739374G>A GRCh37
NC_000017.9:g.36992900G>A NCBI36
NG_008624.1:g.8774C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.1293C>T MANE Select ENSP00000167586.6:p.Phe431=
ENST00000167586.6:c.1293C>T ENSP00000167586.6:p.Phe431=
ENST00000441550.2:n.240C>T
NM_000526.4:c.1293C>T NP_000517.2:p.Phe431=
NM_000526.5:c.1293C>T MANE Select NP_000517.3:p.Phe431=
Search 100 bp 5'
Search 100 bp 3'