Canonical Allele Identifier: CA414440941

Gene: F9

Linked Data

• gnomAD v4: X-139551182-T-C
• MyVariant Identifiers: chrX:g.138633341T>C (hg19) ; chrX:g.139551182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551182T>C , CM000685.2:g.139551182T>C	GRCh38
NC_000023.10:g.138633341T>C , CM000685.1:g.138633341T>C	GRCh37
NC_000023.9:g.138461007T>C	NCBI36
NG_007994.1:g.25447T>C , LRG_556:g.25447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.641T>C MANE Select	ENSP00000218099.2:p.Ile214Thr
ENST00000643157.1:n.1308T>C
ENST00000218099.6:c.641T>C	ENSP00000218099.2:p.Ile214Thr
ENST00000394090.2:c.527T>C	ENSP00000377650.2:p.Ile176Thr
NM_000133.3:c.641T>C , LRG_556t1:c.641T>C	NP_000124.1:p.Ile214Thr
NM_001313913.1:c.527T>C	NP_001300842.1:p.Ile176Thr
XM_005262397.3:c.512T>C	XP_005262454.1:p.Ile171Thr
XM_005262397.4:c.512T>C	XP_005262454.1:p.Ile171Thr
NM_000133.4:c.641T>C MANE Select	NP_000124.1:p.Ile214Thr
NM_001313913.2:c.527T>C	NP_001300842.1:p.Ile176Thr