Canonical Allele Identifier: CA414897391

Gene: F8

Linked Data

• dbSNP Id: rs1448060147
• gnomAD v3: X-154837701-G-A
• gnomAD v4: X-154837701-G-A
• MyVariant Identifiers: chrX:g.154065976G>A (hg19) ; chrX:g.154837701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837701G>A , CM000685.2:g.154837701G>A	GRCh38
NC_000023.10:g.154065976G>A , CM000685.1:g.154065976G>A	GRCh37
NC_000023.9:g.153719170G>A	NCBI36
NG_011403.1:g.190023C>T
NG_033065.1:g.1962C>T
NG_011403.2:g.190023C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6952C>T MANE Select	ENSP00000353393.4:p.Pro2318Ser
ENST00000644698.1:c.685C>T	ENSP00000495706.1:p.Pro229Ser
ENST00000330287.10:c.547C>T	ENSP00000327895.6:p.Pro183Ser
ENST00000360256.8:c.6952C>T	ENSP00000353393.4:p.Pro2318Ser
NM_000132.3:c.6952C>T	NP_000123.1:p.Pro2318Ser
NM_019863.2:c.547C>T	NP_063916.1:p.Pro183Ser
XM_011531126.1:c.6847C>T	XP_011529428.1:p.Pro2283Ser
NM_000132.4:c.6952C>T MANE Select	NP_000123.1:p.Pro2318Ser
NM_019863.3:c.547C>T	NP_063916.1:p.Pro183Ser