Canonical Allele Identifier: CA13621456
Gene: KRT87P HGNC NCBI
KRT7 HGNC NCBI
KRT86 HGNC NCBI
COSMIC:
COSN15315111 (not active)
COSN26465793 (not active)
MyVariant.info:
GRCh38 chr12:g.52251970T>C
GRCh37 chr12:g.52645754T>C
gnomAD v2:
12:52645754 T / C
gnomAD v3:
12:52251970 T / C
gnomAD v4:
chr12-52251970-T-C
Joint Max Group AF 0.32616879 (NFE)
Genomes Max Group AF 0.32768328 (NFE)
Exomes Max Group AF 0.32503304 (NFE)
dbSNP:
1894035
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52251970T>C , CM000674.2:g.52251970T>C GRCh38
NC_000012.11:g.52645754T>C , CM000674.1:g.52645754T>C GRCh37
NC_000012.10:g.50932021T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529785.1:n.1602+57A>G (KRT87P)
ENST00000534226.5:n.1288+57A>G (KRT87P)
ENST00000548657.5:n.423T>C (KRT7)
ENST00000553310.6:c.-5+2542T>C (KRT86) ENSP00000452237.3:n.-5+2542T>C
XM_011538325.1:c.*61T>C (KRT7) XP_011536627.1:n.*61T>C
NR_146088.1:n.1243+57A>G (KRT87P)
XM_011538325.2:c.*61T>C (KRT7) XP_011536627.1:n.*61T>C
XR_001748700.2:n.1693T>C (KRT7)
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