Canonical Allele Identifier: CA8550311
Gene: KRT40 HGNC NCBI
COSMIC:
COSM4623544 (not active)
MyVariant.info:
GRCh38 chr17:g.40978915C>T
GRCh37 chr17:g.39135167C>T
Revel Score:
ENST00000377755 (MANE Select) 0.666
ENST00000398486 0.666
gnomAD v2:
17:39135167 C / T
gnomAD v3:
17:40978915 C / T
gnomAD v4:
chr17-40978915-C-T
Joint Max Group AF 0.00004182 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00003804 (NFE)
ClinVar Allele:
2236627
ClinVar RCV:
RCV004110602
ClinVar Variation:
2255854
dbSNP:
371520084
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40978915C>T , CM000679.2:g.40978915C>T GRCh38
NC_000017.10:g.39135167C>T , CM000679.1:g.39135167C>T GRCh37
NC_000017.9:g.36388693C>T NCBI36
NG_012412.1:g.13221G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377755.9:c.1085G>A MANE Select ENSP00000366984.4:p.Arg362His
ENST00000684280.1:c.1085G>A ENSP00000506768.1:p.Arg362His
ENST00000377755.8:c.1085G>A ENSP00000366984.4:p.Arg362His
ENST00000398486.2:c.1085G>A ENSP00000381500.2:p.Arg362His
ENST00000461923.5:c.*547G>A ENSP00000434458.1:n.*547G>A
NM_182497.3:c.1085G>A NP_872303.2:p.Arg362His
XM_011524338.1:c.1085G>A XP_011522640.1:p.Arg362His
XM_017024189.2:c.1244G>A XP_016879678.1:p.Arg415His
XR_001752885.1:n.192-1534C>T
XR_001752886.1:n.192-1534C>T
NM_182497.4:c.1085G>A NP_872303.2:p.Arg362His
NR_163403.1:n.1410G>A
NM_001385217.1:c.1085G>A NP_001372146.1:p.Arg362His
NM_001389244.1:c.1085G>A MANE Select NP_001376173.1:p.Arg362His
Search 100 bp 5'
Search 100 bp 3'