Canonical Allele Identifier: CA519355292

Gene: F8

Linked Data

• dbSNP Id: rs1203747747
• gnomAD v2: X-154065983-A-G
• gnomAD v4: X-154837708-A-G
• MyVariant Identifiers: chrX:g.154065983A>G (hg19) ; chrX:g.154837708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837708A>G , CM000685.2:g.154837708A>G	GRCh38
NC_000023.10:g.154065983A>G , CM000685.1:g.154065983A>G	GRCh37
NC_000023.9:g.153719177A>G	NCBI36
NG_011403.1:g.190016T>C
NG_033065.1:g.1955T>C
NG_011403.2:g.190016T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6945T>C MANE Select	ENSP00000353393.4:p.Ser2315=
ENST00000644698.1:c.678T>C	ENSP00000495706.1:p.Ser226=
ENST00000330287.10:c.540T>C	ENSP00000327895.6:p.Ser180=
ENST00000360256.8:c.6945T>C	ENSP00000353393.4:p.Ser2315=
NM_000132.3:c.6945T>C	NP_000123.1:p.Ser2315=
NM_019863.2:c.540T>C	NP_063916.1:p.Ser180=
XM_011531126.1:c.6840T>C	XP_011529428.1:p.Ser2280=
NM_000132.4:c.6945T>C MANE Select	NP_000123.1:p.Ser2315=
NM_019863.3:c.540T>C	NP_063916.1:p.Ser180=