Canonical Allele Identifier: CA414446060

Gene: F9

Linked Data

• dbSNP Id: rs1383972991
• gnomAD v2: X-138643970-C-T
• gnomAD v3: X-139561811-C-T
• gnomAD v4: X-139561811-C-T
• MyVariant Identifiers: chrX:g.138643970C>T (hg19) ; chrX:g.139561811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561811C>T , CM000685.2:g.139561811C>T	GRCh38
NC_000023.10:g.138643970C>T , CM000685.1:g.138643970C>T	GRCh37
NC_000023.9:g.138471636C>T	NCBI36
NG_007994.1:g.36076C>T , LRG_556:g.36076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1126C>T MANE Select	ENSP00000218099.2:p.Leu376Phe
ENST00000643157.1:n.1723+70C>T
ENST00000218099.6:c.1126C>T	ENSP00000218099.2:p.Leu376Phe
ENST00000394090.2:c.1012C>T	ENSP00000377650.2:p.Leu338Phe
NM_000133.3:c.1126C>T , LRG_556t1:c.1126C>T	NP_000124.1:p.Leu376Phe
NM_001313913.1:c.1012C>T	NP_001300842.1:p.Leu338Phe
XM_005262397.3:c.997C>T	XP_005262454.1:p.Leu333Phe
XM_005262397.4:c.997C>T	XP_005262454.1:p.Leu333Phe
NM_000133.4:c.1126C>T MANE Select	NP_000124.1:p.Leu376Phe
NM_001313913.2:c.1012C>T	NP_001300842.1:p.Leu338Phe