Canonical Allele Identifier: CA216558
Gene: KRT9 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41571523A>C
GRCh37 chr17:g.39727775A>C
Revel Score:
ENST00000246662 (MANE Select) 0.877
ClinVar RCV:
RCV000056456
ClinVar Variation:
66153
dbSNP:
59510579
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41571523A>C , CM000679.2:g.41571523A>C GRCh38
NC_000017.10:g.39727775A>C , CM000679.1:g.39727775A>C GRCh37
NC_000017.9:g.36981301A>C NCBI36
NG_008300.1:g.5536T>G
NG_008300.2:g.5536T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246662.9:c.470T>G MANE Select ENSP00000246662.4:p.Met157Arg
ENST00000246662.8:c.470T>G ENSP00000246662.4:p.Met157Arg
ENST00000588431.1:c.-189-41T>G ENSP00000467932.1:n.-189-41T>G
NM_000226.3:c.470T>G NP_000217.2:p.Met157Arg
NM_000226.4:c.470T>G MANE Select NP_000217.2:p.Met157Arg
Search 100 bp 5'
Search 100 bp 3'