Canonical Allele Identifier: CA519358006

Gene: F8

Linked Data

• dbSNP Id: rs1557272981
• gnomAD v2: X-154091479-T-G
• gnomAD v3: X-154863204-T-G
• gnomAD v4: X-154863204-T-G
• MyVariant Identifiers: chrX:g.154091479T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863204T>G , CM000685.2:g.154863204T>G	GRCh38
NC_000023.10:g.154091479T>G , CM000685.1:g.154091479T>G	GRCh37
NC_000023.9:g.153744673T>G	NCBI36
NG_011403.1:g.164520A>C
NG_011403.2:g.164520A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6453A>C MANE Select	ENSP00000353393.4:p.Ser2151=
ENST00000644698.1:c.186A>C	ENSP00000495706.1:p.Ser62=
ENST00000330287.10:c.48A>C	ENSP00000327895.6:p.Ser16=
ENST00000360256.8:c.6453A>C	ENSP00000353393.4:p.Ser2151=
NM_000132.3:c.6453A>C	NP_000123.1:p.Ser2151=
NM_019863.2:c.48A>C	NP_063916.1:p.Ser16=
XM_011531126.1:c.6348A>C	XP_011529428.1:p.Ser2116=
NM_000132.4:c.6453A>C MANE Select	NP_000123.1:p.Ser2151=
NM_019863.3:c.48A>C	NP_063916.1:p.Ser16=