Canonical Allele Identifier: CA414905428

Gene: F8

Linked Data

• dbSNP Id: rs2073022685
• MyVariant Identifiers: chrX:g.154132186T>C (hg19) ; chrX:g.154903911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154903911T>C , CM000685.2:g.154903911T>C	GRCh38
NC_000023.10:g.154132186T>C , CM000685.1:g.154132186T>C	GRCh37
NC_000023.9:g.153785380T>C	NCBI36
NG_011403.1:g.123813A>G
NG_011403.2:g.123813A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.5993A>G MANE Select	ENSP00000353393.4:p.Tyr1998Cys
ENST00000360256.8:c.5993A>G	ENSP00000353393.4:p.Tyr1998Cys
NM_000132.3:c.5993A>G	NP_000123.1:p.Tyr1998Cys
XM_011531126.1:c.5888A>G	XP_011529428.1:p.Tyr1963Cys
NM_000132.4:c.5993A>G MANE Select	NP_000123.1:p.Tyr1998Cys