Canonical Allele Identifier: CA255023
Gene: F8 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.154928607T>C
GRCh37 chrX:g.154156882T>C
Revel Score:
ENST00000360256 (MANE Select) 0.930
ClinVar RCV:
RCV000010829
ClinVar Variation:
10116
dbSNP:
137852362
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928607T>C , CM000685.2:g.154928607T>C GRCh38
NC_000023.10:g.154156882T>C , CM000685.1:g.154156882T>C GRCh37
NC_000023.9:g.153810076T>C NCBI36
NG_011403.1:g.99117A>G
NG_011403.2:g.99117A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5183A>G MANE Select ENSP00000353393.4:p.Tyr1728Cys
ENST00000360256.8:c.5183A>G ENSP00000353393.4:p.Tyr1728Cys
NM_000132.3:c.5183A>G NP_000123.1:p.Tyr1728Cys
XM_011531126.1:c.5078A>G XP_011529428.1:p.Tyr1693Cys
NM_000132.4:c.5183A>G MANE Select NP_000123.1:p.Tyr1728Cys
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