Canonical Allele Identifier: CA519356051
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2072681763
MyVariant Identifiers: chrX:g.154088731G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860456G>C , CM000685.2:g.154860456G>C GRCh38
NC_000023.10:g.154088731G>C , CM000685.1:g.154088731G>C GRCh37
NC_000023.9:g.153741925G>C NCBI36
NG_011403.1:g.167268C>G
NG_011403.2:g.167268C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6876C>G MANE Select ENSP00000353393.4:p.Leu2292=
ENST00000644698.1:c.609C>G ENSP00000495706.1:p.Leu203=
ENST00000330287.10:c.471C>G ENSP00000327895.6:p.Leu157=
ENST00000360256.8:c.6876C>G ENSP00000353393.4:p.Leu2292=
NM_000132.3:c.6876C>G NP_000123.1:p.Leu2292=
NM_019863.2:c.471C>G NP_063916.1:p.Leu157=
XM_011531126.1:c.6771C>G XP_011529428.1:p.Leu2257=
NM_000132.4:c.6876C>G MANE Select NP_000123.1:p.Leu2292=
NM_019863.3:c.471C>G NP_063916.1:p.Leu157=