Canonical Allele Identifier: CA115908
Gene: KRT9 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41571524T>C
GRCh37 chr17:g.39727776T>C
Revel Score:
ENST00000246662 (MANE Select) 0.811
ClinVar RCV:
RCV000003138
RCV000056453
ClinVar Variation:
3002
dbSNP:
58597584
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41571524T>C , CM000679.2:g.41571524T>C GRCh38
NC_000017.10:g.39727776T>C , CM000679.1:g.39727776T>C GRCh37
NC_000017.9:g.36981302T>C NCBI36
NG_008300.1:g.5535A>G
NG_008300.2:g.5535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246662.9:c.469A>G MANE Select ENSP00000246662.4:p.Met157Val
ENST00000246662.8:c.469A>G ENSP00000246662.4:p.Met157Val
ENST00000588431.1:c.-189-42A>G ENSP00000467932.1:n.-189-42A>G
NM_000226.3:c.469A>G NP_000217.2:p.Met157Val
NM_000226.4:c.469A>G MANE Select NP_000217.2:p.Met157Val
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