Canonical Allele Identifier: CA414907033

Gene: F8

Linked Data

• ClinVar Variation Id: 1330511
• ClinVar RCV Id: RCV001803603
• dbSNP Id: rs2148568062
• MyVariant Identifiers: chrX:g.154091382C>G (hg19) ; chrX:g.154863107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863107C>G , CM000685.2:g.154863107C>G	GRCh38
NC_000023.10:g.154091382C>G , CM000685.1:g.154091382C>G	GRCh37
NC_000023.9:g.153744576C>G	NCBI36
NG_011403.1:g.164617G>C
NG_011403.2:g.164617G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6550G>C MANE Select	ENSP00000353393.4:p.Glu2184Gln
ENST00000644698.1:c.283G>C	ENSP00000495706.1:p.Glu95Gln
ENST00000330287.10:c.145G>C	ENSP00000327895.6:p.Glu49Gln
ENST00000360256.8:c.6550G>C	ENSP00000353393.4:p.Glu2184Gln
NM_000132.3:c.6550G>C	NP_000123.1:p.Glu2184Gln
NM_019863.2:c.145G>C	NP_063916.1:p.Glu49Gln
XM_011531126.1:c.6445G>C	XP_011529428.1:p.Glu2149Gln
NM_000132.4:c.6550G>C MANE Select	NP_000123.1:p.Glu2184Gln
NM_019863.3:c.145G>C	NP_063916.1:p.Glu49Gln