Canonical Allele Identifier: CA290665525
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs868671299
gnomAD v4: 17-41586298-C-T
MyVariant Identifiers: chr17:g.39742550C>T (hg19) chr17:g.41586298C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586298C>T , CM000679.2:g.41586298C>T GRCh38
NC_000017.10:g.39742550C>T , CM000679.1:g.39742550C>T GRCh37
NC_000017.9:g.36996076C>T NCBI36
NG_008624.1:g.5598G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.525+12G>A MANE Select ENSP00000167586.6:n.525+12G>A
ENST00000167586.6:c.525+12G>A ENSP00000167586.6:n.525+12G>A
NM_000526.4:c.525+12G>A NP_000517.2:n.525+12G>A
NM_000526.5:c.525+12G>A MANE Select NP_000517.3:n.525+12G>A
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