Canonical Allele Identifier: CA485020388

Gene: F7

Linked Data

• COSMIC: COSM695946 ; COSM6138481
• MyVariant Identifiers: chr13:g.113768231C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113917C>T , CM000675.2:g.113113917C>T	GRCh38
NC_000013.10:g.113768231C>T , CM000675.1:g.113768231C>T	GRCh37
NC_000013.9:g.112816232C>T	NCBI36
NG_009262.1:g.13127C>T , LRG_554:g.13127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.321C>T MANE Select	ENSP00000329546.4:p.Ile107=
ENST00000346342.7:c.321C>T	ENSP00000329546.3:p.Ile107=
ENST00000375581.3:c.387C>T	ENSP00000364731.3:p.Ile129=
ENST00000444337.1:c.*129C>T	ENSP00000387669.1:n.*129C>T
ENST00000473085.1:n.268C>T
ENST00000479674.1:n.654C>T
ENST00000541084.5:c.135C>T	ENSP00000442051.2:p.Ile45=
NM_000131.4:c.387C>T , LRG_554t1:c.387C>T	NP_000122.1:p.Ile129=
NM_001267554.1:c.135C>T	NP_001254483.1:p.Ile45=
NM_019616.3:c.321C>T , LRG_554t2:c.321C>T	NP_062562.1:p.Ile107=
NR_051961.1:n.408C>T
XM_006719963.2:c.321C>T	XP_006720026.1:p.Ile107=
XM_011537474.1:c.321C>T	XP_011535776.1:p.Ile107=
XM_011537475.1:c.135C>T	XP_011535777.1:p.Ile45=
XM_011537477.1:c.282C>T	XP_011535779.1:p.Ile94=
XM_006719963.3:c.366C>T	XP_006720026.2:p.Ile122=
XM_011537474.2:c.366C>T	XP_011535776.2:p.Ile122=
XM_011537475.2:c.180C>T	XP_011535777.2:p.Ile60=
NM_019616.4:c.321C>T MANE Select	NP_062562.1:p.Ile107=
NR_051961.2:n.405C>T
NM_001267554.2:c.135C>T	NP_001254483.1:p.Ile45=