Canonical Allele Identifier: CA255224
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10332
dbSNP Id: rs137852472

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837697G>A , CM000685.2:g.154837697G>A GRCh38
NC_000023.10:g.154065972G>A , CM000685.1:g.154065972G>A GRCh37
NC_000023.9:g.153719166G>A NCBI36
NG_011403.1:g.190027C>T
NG_033065.1:g.1966C>T
NG_011403.2:g.190027C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6956C>T MANE Select ENSP00000353393.4:p.Pro2319Leu
ENST00000644698.1:c.689C>T ENSP00000495706.1:p.Pro230Leu
ENST00000330287.10:c.551C>T ENSP00000327895.6:p.Pro184Leu
ENST00000360256.8:c.6956C>T ENSP00000353393.4:p.Pro2319Leu
NM_000132.3:c.6956C>T NP_000123.1:p.Pro2319Leu
NM_019863.2:c.551C>T NP_063916.1:p.Pro184Leu
XM_011531126.1:c.6851C>T XP_011529428.1:p.Pro2284Leu
NM_000132.4:c.6956C>T MANE Select NP_000123.1:p.Pro2319Leu
NM_019863.3:c.551C>T NP_063916.1:p.Pro184Leu