Canonical Allele Identifier: CA255227
Gene: F8 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.154992945A>C
GRCh37 chrX:g.154221220A>C
Revel Score:
ENST00000360256 (MANE Select) 0.909
ENST00000423959 0.909
ClinVar Allele:
25390
ClinVar RCV:
RCV000011064
ClinVar Variation:
10351
dbSNP:
137852475
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992945A>C , CM000685.2:g.154992945A>C GRCh38
NC_000023.10:g.154221220A>C , CM000685.1:g.154221220A>C GRCh37
NC_000023.9:g.153874414A>C NCBI36
NG_011403.1:g.34779T>G
NG_011403.2:g.34779T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.592T>G MANE Select ENSP00000353393.4:p.Cys198Gly
ENST00000647125.1:c.*378T>G ENSP00000496062.1:n.*378T>G
ENST00000360256.8:c.592T>G ENSP00000353393.4:p.Cys198Gly
ENST00000423959.5:c.487T>G ENSP00000409446.1:p.Cys163Gly
NM_000132.3:c.592T>G NP_000123.1:p.Cys198Gly
XM_011531126.1:c.487T>G XP_011529428.1:p.Cys163Gly
NM_000132.4:c.592T>G MANE Select NP_000123.1:p.Cys198Gly
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