Canonical Allele Identifier: CA414902922

Gene: F8

Linked Data

• dbSNP Id: rs2148566510
• gnomAD v3: X-154860442-C-T
• gnomAD v4: X-154860442-C-T
• MyVariant Identifiers: chrX:g.154088717C>T (hg19) ; chrX:g.154860442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860442C>T , CM000685.2:g.154860442C>T	GRCh38
NC_000023.10:g.154088717C>T , CM000685.1:g.154088717C>T	GRCh37
NC_000023.9:g.153741911C>T	NCBI36
NG_011403.1:g.167282G>A
NG_011403.2:g.167282G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6890G>A MANE Select	ENSP00000353393.4:p.Gly2297Asp
ENST00000644698.1:c.623G>A	ENSP00000495706.1:p.Gly208Asp
ENST00000330287.10:c.485G>A	ENSP00000327895.6:p.Gly162Asp
ENST00000360256.8:c.6890G>A	ENSP00000353393.4:p.Gly2297Asp
NM_000132.3:c.6890G>A	NP_000123.1:p.Gly2297Asp
NM_019863.2:c.485G>A	NP_063916.1:p.Gly162Asp
XM_011531126.1:c.6785G>A	XP_011529428.1:p.Gly2262Asp
NM_000132.4:c.6890G>A MANE Select	NP_000123.1:p.Gly2297Asp
NM_019863.3:c.485G>A	NP_063916.1:p.Gly162Asp