Canonical Allele Identifier: CA414903581

Gene: F8

Linked Data

• dbSNP Id: rs988099238
• gnomAD v3: X-154860500-C-T
• gnomAD v4: X-154860500-C-T
• MyVariant Identifiers: chrX:g.154088775C>T (hg19) ; chrX:g.154860500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860500C>T , CM000685.2:g.154860500C>T	GRCh38
NC_000023.10:g.154088775C>T , CM000685.1:g.154088775C>T	GRCh37
NC_000023.9:g.153741969C>T	NCBI36
NG_011403.1:g.167224G>A
NG_011403.2:g.167224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6832G>A MANE Select	ENSP00000353393.4:p.Glu2278Lys
ENST00000644698.1:c.565G>A	ENSP00000495706.1:p.Glu189Lys
ENST00000330287.10:c.427G>A	ENSP00000327895.6:p.Glu143Lys
ENST00000360256.8:c.6832G>A	ENSP00000353393.4:p.Glu2278Lys
NM_000132.3:c.6832G>A	NP_000123.1:p.Glu2278Lys
NM_019863.2:c.427G>A	NP_063916.1:p.Glu143Lys
XM_011531126.1:c.6727G>A	XP_011529428.1:p.Glu2243Lys
NM_000132.4:c.6832G>A MANE Select	NP_000123.1:p.Glu2278Lys
NM_019863.3:c.427G>A	NP_063916.1:p.Glu143Lys