Canonical Allele Identifier: CA10529737

Gene: F9

Linked Data

• ClinVar Variation Id: 700669
• ClinVar RCV Id: RCV001518998 ; RCV001825740
• dbSNP Id: rs745353370
• ExAC: X:138619194 C / T
• gnomAD v2: X-138619194-C-T
• gnomAD v3: X-139537035-C-T
• gnomAD v4: X-139537035-C-T
• MyVariant Identifiers: chrX:g.138619194C>T (hg19) ; chrX:g.139537035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139537035C>T , CM000685.2:g.139537035C>T	GRCh38
NC_000023.10:g.138619194C>T , CM000685.1:g.138619194C>T	GRCh37
NC_000023.9:g.138446860C>T	NCBI36
NG_007994.1:g.11300C>T , LRG_556:g.11300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.114C>T MANE Select	ENSP00000218099.2:p.Asn38=
ENST00000218099.6:c.114C>T	ENSP00000218099.2:p.Asn38=
ENST00000394090.2:c.114C>T	ENSP00000377650.2:p.Asn38=
ENST00000479617.2:n.121C>T
NM_000133.3:c.114C>T , LRG_556t1:c.114C>T	NP_000124.1:p.Asn38=
NM_001313913.1:c.114C>T	NP_001300842.1:p.Asn38=
XM_005262397.3:c.114C>T	XP_005262454.1:p.Asn38=
XM_005262397.4:c.114C>T	XP_005262454.1:p.Asn38=
NM_000133.4:c.114C>T MANE Select	NP_000124.1:p.Asn38=
NM_001313913.2:c.114C>T	NP_001300842.1:p.Asn38=