Canonical Allele Identifier: CA8560617
Gene: KRT13 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41502942T>C
GRCh37 chr17:g.39659194T>C
Revel Score:
ENST00000246635 (MANE Select) 0.108
ENST00000336861 0.108
ENST00000157775 0.108
gnomAD v2:
17:39659194 T / C
gnomAD v3:
17:41502942 T / C
gnomAD v4:
chr17-41502942-T-C
Joint Max Group AF 0.99456678 (NFE)
Genomes Max Group AF 0.98908573 (NFE)
Exomes Max Group AF 0.99456515 (NFE)
ClinVar RCV:
RCV001731064
ClinVar Variation:
1300083
dbSNP:
4796697
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41502942T>C , CM000679.2:g.41502942T>C GRCh38
NC_000017.10:g.39659194T>C , CM000679.1:g.39659194T>C GRCh37
NC_000017.9:g.36912720T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000246635.8:c.892A>G MANE Select ENSP00000246635.3:p.Thr298Ala
ENST00000246635.7:c.892A>G ENSP00000246635.3:p.Thr298Ala
ENST00000336861.7:c.892A>G ENSP00000336604.3:p.Thr298Ala
ENST00000464634.2:c.*489A>G ENSP00000466525.1:n.*489A>G
ENST00000468313.5:n.728A>G
ENST00000587544.5:c.892A>G ENSP00000468221.1:p.Thr298Ala
NM_153490.3:c.892A>G MANE Select NP_705694.3:p.Thr298Ala
NM_002274.4:c.892A>G NP_002265.3:p.Thr298Ala
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