Canonical Allele Identifier: CA255219
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10328
dbSNP Id: rs137852470

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860538T>C , CM000685.2:g.154860538T>C GRCh38
NC_000023.10:g.154088813T>C , CM000685.1:g.154088813T>C GRCh37
NC_000023.9:g.153742007T>C NCBI36
NG_011403.1:g.167186A>G
NG_011403.2:g.167186A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6794A>G MANE Select ENSP00000353393.4:p.Gln2265Arg
ENST00000644698.1:c.527A>G ENSP00000495706.1:p.Gln176Arg
ENST00000330287.10:c.389A>G ENSP00000327895.6:p.Gln130Arg
ENST00000360256.8:c.6794A>G ENSP00000353393.4:p.Gln2265Arg
NM_000132.3:c.6794A>G NP_000123.1:p.Gln2265Arg
NM_019863.2:c.389A>G NP_063916.1:p.Gln130Arg
XM_011531126.1:c.6689A>G XP_011529428.1:p.Gln2230Arg
NM_000132.4:c.6794A>G MANE Select NP_000123.1:p.Gln2265Arg
NM_019863.3:c.389A>G NP_063916.1:p.Gln130Arg