Canonical Allele Identifier: CA388785801

Gene: F7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.758A>C MANE Select	ENSP00000329546.4:p.Glu253Ala
ENST00000346342.7:c.758A>C	ENSP00000329546.3:p.Glu253Ala
ENST00000375581.3:c.824A>C	ENSP00000364731.3:p.Glu275Ala
ENST00000541084.5:c.572A>C	ENSP00000442051.2:p.Glu191Ala
NM_000131.4:c.824A>C , LRG_554t1:c.824A>C	NP_000122.1:p.Glu275Ala
NM_001267554.1:c.572A>C	NP_001254483.1:p.Glu191Ala
NM_019616.3:c.758A>C , LRG_554t2:c.758A>C	NP_062562.1:p.Glu253Ala
NR_051961.1:n.845A>C
XM_006719963.2:c.617A>C	XP_006720026.1:p.Glu206Ala
XM_011537474.1:c.866A>C	XP_011535776.1:p.Glu289Ala
XM_011537475.1:c.680A>C	XP_011535777.1:p.Glu227Ala
XM_011537476.1:c.518A>C	XP_011535778.1:p.Glu173Ala
XM_011537477.1:c.827A>C	XP_011535779.1:p.Glu276Ala
XM_006719963.3:c.662A>C	XP_006720026.2:p.Glu221Ala
XM_011537474.2:c.911A>C	XP_011535776.2:p.Glu304Ala
XM_011537475.2:c.725A>C	XP_011535777.2:p.Glu242Ala
XM_011537476.2:c.518A>C	XP_011535778.1:p.Glu173Ala
NM_019616.4:c.758A>C MANE Select	NP_062562.1:p.Glu253Ala
NR_051961.2:n.842A>C
NM_001267554.2:c.572A>C	NP_001254483.1:p.Glu191Ala