Canonical Allele Identifier: CA414913959
Gene: F8 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.154928694T>G
GRCh37 chrX:g.154156969T>G
Revel Score:
ENST00000360256 (MANE Select) 0.689
ClinVar RCV:
RCV003548273
ClinVar Variation:
2713111
dbSNP:
28935203
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928694T>G , CM000685.2:g.154928694T>G GRCh38
NC_000023.10:g.154156969T>G , CM000685.1:g.154156969T>G GRCh37
NC_000023.9:g.153810163T>G NCBI36
NG_011403.1:g.99030A>C
NG_011403.2:g.99030A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5096A>C MANE Select ENSP00000353393.4:p.Tyr1699Ser
ENST00000360256.8:c.5096A>C ENSP00000353393.4:p.Tyr1699Ser
NM_000132.3:c.5096A>C NP_000123.1:p.Tyr1699Ser
XM_011531126.1:c.4991A>C XP_011529428.1:p.Tyr1664Ser
NM_000132.4:c.5096A>C MANE Select NP_000123.1:p.Tyr1699Ser
Search 100 bp 5'
Search 100 bp 3'