Canonical Allele Identifier: CA8562484
Gene: KRT14 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41583346C>T
GRCh37 chr17:g.39739598C>T
Revel Score:
ENST00000167586 (MANE Select) 0.841
gnomAD v2:
17:39739598 C / T
gnomAD v3:
17:41583346 C / T
gnomAD v4:
chr17-41583346-C-T
Joint Max Group AF 0.00001803 (NFE)
Exomes Max Group AF 0.0000183 (NFE)
ClinVar RCV:
RCV000487370
ClinVar Variation:
419836
dbSNP:
58645163
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583346C>T , CM000679.2:g.41583346C>T GRCh38
NC_000017.10:g.39739598C>T , CM000679.1:g.39739598C>T GRCh37
NC_000017.9:g.36993124C>T NCBI36
NG_008624.1:g.8550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1163G>A MANE Select ENSP00000167586.6:p.Arg388His
ENST00000167586.6:c.1163G>A ENSP00000167586.6:p.Arg388His
ENST00000441550.2:n.110G>A
ENST00000476662.1:n.613G>A
NM_000526.4:c.1163G>A NP_000517.2:p.Arg388His
NM_000526.5:c.1163G>A MANE Select NP_000517.3:p.Arg388His
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