Canonical Allele Identifier: CA255204
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10311
ClinVar RCV Id: RCV000011024
dbSNP Id: rs137852460

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896093G>T , CM000685.2:g.154896093G>T GRCh38
NC_000023.10:g.154124368G>T , CM000685.1:g.154124368G>T GRCh37
NC_000023.9:g.153777562G>T NCBI36
NG_011403.1:g.131631C>A
NG_011403.2:g.131631C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6413C>A MANE Select ENSP00000353393.4:p.Ser2138Tyr
ENST00000360256.8:c.6413C>A ENSP00000353393.4:p.Ser2138Tyr
NM_000132.3:c.6413C>A NP_000123.1:p.Ser2138Tyr
XM_011531126.1:c.6308C>A XP_011529428.1:p.Ser2103Tyr
NM_000132.4:c.6413C>A MANE Select NP_000123.1:p.Ser2138Tyr