Canonical Allele Identifier: CA414919206
Gene: F8 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.154987242T>G
GRCh37 chrX:g.154215517T>G
Revel Score:
ENST00000360256 (MANE Select) 0.883
ENST00000423959 0.883
ClinVar RCV:
RCV001802300
ClinVar Variation:
1330641
dbSNP:
137852396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154987242T>G , CM000685.2:g.154987242T>G GRCh38
NC_000023.10:g.154215517T>G , CM000685.1:g.154215517T>G GRCh37
NC_000023.9:g.153868711T>G NCBI36
NG_011403.1:g.40482A>C
NG_011403.2:g.40482A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.665A>C MANE Select ENSP00000353393.4:p.Asp222Ala
ENST00000647125.1:c.*451A>C ENSP00000496062.1:n.*451A>C
ENST00000360256.8:c.665A>C ENSP00000353393.4:p.Asp222Ala
ENST00000423959.5:c.560A>C ENSP00000409446.1:p.Asp187Ala
NM_000132.3:c.665A>C NP_000123.1:p.Asp222Ala
XM_011531126.1:c.560A>C XP_011529428.1:p.Asp187Ala
NM_000132.4:c.665A>C MANE Select NP_000123.1:p.Asp222Ala
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