Canonical Allele Identifier: CA414904768

Gene: F8

Linked Data

• ClinVar Variation Id: 2920957
• ClinVar RCV Id: RCV003736486
• MyVariant Identifiers: chrX:g.154088865A>C (hg19) ; chrX:g.154860590A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860590A>C , CM000685.2:g.154860590A>C	GRCh38
NC_000023.10:g.154088865A>C , CM000685.1:g.154088865A>C	GRCh37
NC_000023.9:g.153742059A>C	NCBI36
NG_011403.1:g.167134T>G
NG_011403.2:g.167134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6742T>G MANE Select	ENSP00000353393.4:p.Trp2248Gly
ENST00000644698.1:c.475T>G	ENSP00000495706.1:p.Trp159Gly
ENST00000330287.10:c.337T>G	ENSP00000327895.6:p.Trp113Gly
ENST00000360256.8:c.6742T>G	ENSP00000353393.4:p.Trp2248Gly
NM_000132.3:c.6742T>G	NP_000123.1:p.Trp2248Gly
NM_019863.2:c.337T>G	NP_063916.1:p.Trp113Gly
XM_011531126.1:c.6637T>G	XP_011529428.1:p.Trp2213Gly
NM_000132.4:c.6742T>G MANE Select	NP_000123.1:p.Trp2248Gly
NM_019863.3:c.337T>G	NP_063916.1:p.Trp113Gly