Canonical Allele Identifier: CA115910
Gene: KRT9 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41571490A>G
GRCh37 chr17:g.39727742A>G
Revel Score:
ENST00000246662 (MANE Select) 0.933
ClinVar RCV:
RCV000003140
RCV000056469
ClinVar Variation:
3004
dbSNP:
61157095
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41571490A>G , CM000679.2:g.41571490A>G GRCh38
NC_000017.10:g.39727742A>G , CM000679.1:g.39727742A>G GRCh37
NC_000017.9:g.36981268A>G NCBI36
NG_008300.1:g.5569T>C
NG_008300.2:g.5569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000246662.9:c.503T>C MANE Select ENSP00000246662.4:p.Leu168Ser
ENST00000246662.8:c.503T>C ENSP00000246662.4:p.Leu168Ser
ENST00000588431.1:c.-189-8T>C ENSP00000467932.1:n.-189-8T>C
NM_000226.3:c.503T>C NP_000217.2:p.Leu168Ser
NM_000226.4:c.503T>C MANE Select NP_000217.2:p.Leu168Ser
Search 100 bp 5'
Search 100 bp 3'