Canonical Allele Identifier: CA216559
Gene: KRT9 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41571512T>G
GRCh37 chr17:g.39727764T>G
Revel Score:
ENST00000246662 (MANE Select) 0.876
ClinVar RCV:
RCV000056459
ClinVar Variation:
66154
dbSNP:
59296273
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41571512T>G , CM000679.2:g.41571512T>G GRCh38
NC_000017.10:g.39727764T>G , CM000679.1:g.39727764T>G GRCh37
NC_000017.9:g.36981290T>G NCBI36
NG_008300.1:g.5547A>C
NG_008300.2:g.5547A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000246662.9:c.481A>C MANE Select ENSP00000246662.4:p.Asn161His
ENST00000246662.8:c.481A>C ENSP00000246662.4:p.Asn161His
ENST00000588431.1:c.-189-30A>C ENSP00000467932.1:n.-189-30A>C
NM_000226.3:c.481A>C NP_000217.2:p.Asn161His
NM_000226.4:c.481A>C MANE Select NP_000217.2:p.Asn161His
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