Canonical Allele Identifier: CA336143476

Gene: F9

Linked Data

• dbSNP Id: rs1015621382
• gnomAD v4: X-139562023-G-C
• MyVariant Identifiers: chrX:g.138644182G>C (hg19) ; chrX:g.139562023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139562023G>C , CM000685.2:g.139562023G>C	GRCh38
NC_000023.10:g.138644182G>C , CM000685.1:g.138644182G>C	GRCh37
NC_000023.9:g.138471848G>C	NCBI36
NG_007994.1:g.36288G>C , LRG_556:g.36288G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1338G>C MANE Select	ENSP00000218099.2:p.Lys446Asn
ENST00000643157.1:n.1723+282G>C
ENST00000218099.6:c.1338G>C	ENSP00000218099.2:p.Lys446Asn
ENST00000394090.2:c.1224G>C	ENSP00000377650.2:p.Lys408Asn
NM_000133.3:c.1338G>C , LRG_556t1:c.1338G>C	NP_000124.1:p.Lys446Asn
NM_001313913.1:c.1224G>C	NP_001300842.1:p.Lys408Asn
XM_005262397.3:c.1209G>C	XP_005262454.1:p.Lys403Asn
XM_005262397.4:c.1209G>C	XP_005262454.1:p.Lys403Asn
NM_000133.4:c.1338G>C MANE Select	NP_000124.1:p.Lys446Asn
NM_001313913.2:c.1224G>C	NP_001300842.1:p.Lys408Asn