Canonical Allele Identifier: CA388785803

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772745A>T (hg19) ; chr13:g.113118431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118431A>T , CM000675.2:g.113118431A>T	GRCh38
NC_000013.10:g.113772745A>T , CM000675.1:g.113772745A>T	GRCh37
NC_000013.9:g.112820746A>T	NCBI36
NG_009258.1:g.633A>T , LRG_548:g.633A>T
NG_009262.1:g.17641A>T , LRG_554:g.17641A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.758A>T MANE Select	ENSP00000329546.4:p.Glu253Val
ENST00000346342.7:c.758A>T	ENSP00000329546.3:p.Glu253Val
ENST00000375581.3:c.824A>T	ENSP00000364731.3:p.Glu275Val
ENST00000541084.5:c.572A>T	ENSP00000442051.2:p.Glu191Val
NM_000131.4:c.824A>T , LRG_554t1:c.824A>T	NP_000122.1:p.Glu275Val
NM_001267554.1:c.572A>T	NP_001254483.1:p.Glu191Val
NM_019616.3:c.758A>T , LRG_554t2:c.758A>T	NP_062562.1:p.Glu253Val
NR_051961.1:n.845A>T
XM_006719963.2:c.617A>T	XP_006720026.1:p.Glu206Val
XM_011537474.1:c.866A>T	XP_011535776.1:p.Glu289Val
XM_011537475.1:c.680A>T	XP_011535777.1:p.Glu227Val
XM_011537476.1:c.518A>T	XP_011535778.1:p.Glu173Val
XM_011537477.1:c.827A>T	XP_011535779.1:p.Glu276Val
XM_006719963.3:c.662A>T	XP_006720026.2:p.Glu221Val
XM_011537474.2:c.911A>T	XP_011535776.2:p.Glu304Val
XM_011537475.2:c.725A>T	XP_011535777.2:p.Glu242Val
XM_011537476.2:c.518A>T	XP_011535778.1:p.Glu173Val
NM_019616.4:c.758A>T MANE Select	NP_062562.1:p.Glu253Val
NR_051961.2:n.842A>T
NM_001267554.2:c.572A>T	NP_001254483.1:p.Glu191Val