Canonical Allele Identifier: CA8562417
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs377092456
ExAC: 17:39739379 G / A
gnomAD v2: 17-39739379-G-A
gnomAD v3: 17-41583127-G-A
gnomAD v4: 17-41583127-G-A
MyVariant Identifiers: chr17:g.39739379G>A (hg19) chr17:g.39739379_39739382delinsAGGA (hg19) chr17:g.41583127G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583127G>A , CM000679.2:g.41583127G>A GRCh38
NC_000017.10:g.39739379G>A , CM000679.1:g.39739379G>A GRCh37
NC_000017.9:g.36992905G>A NCBI36
NG_008624.1:g.8769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1288C>T MANE Select ENSP00000167586.6:p.Gln430Ter
ENST00000167586.6:c.1288C>T ENSP00000167586.6:p.Gln430Ter
ENST00000441550.2:n.235C>T
NM_000526.4:c.1288C>T NP_000517.2:p.Gln430Ter
NM_000526.5:c.1288C>T MANE Select NP_000517.3:p.Gln430Ter
Search 100 bp 5'
Search 100 bp 3'