Canonical Allele Identifier: CA388787176

Gene: F7

Linked Data

• COSMIC: COSM5675142 ; COSM5675143
• MyVariant Identifiers: chr13:g.113773282A>T (hg19) ; chr13:g.113118968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118968A>T , CM000675.2:g.113118968A>T	GRCh38
NC_000013.10:g.113773282A>T , CM000675.1:g.113773282A>T	GRCh37
NC_000013.9:g.112821283A>T	NCBI36
NG_009258.1:g.1170A>T , LRG_548:g.1170A>T
NG_009262.1:g.18178A>T , LRG_554:g.18178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1295A>T MANE Select	ENSP00000329546.4:p.Glu432Val
ENST00000346342.7:c.1295A>T	ENSP00000329546.3:p.Glu432Val
ENST00000375581.3:c.1361A>T	ENSP00000364731.3:p.Glu454Val
ENST00000541084.5:c.1109A>T	ENSP00000442051.2:p.Glu370Val
NM_000131.4:c.1361A>T , LRG_554t1:c.1361A>T	NP_000122.1:p.Glu454Val
NM_001267554.1:c.1109A>T	NP_001254483.1:p.Glu370Val
NM_019616.3:c.1295A>T , LRG_554t2:c.1295A>T	NP_062562.1:p.Glu432Val
NR_051961.1:n.1382A>T
XM_006719963.2:c.1154A>T	XP_006720026.1:p.Glu385Val
XM_011537474.1:c.1403A>T	XP_011535776.1:p.Glu468Val
XM_011537475.1:c.1217A>T	XP_011535777.1:p.Glu406Val
XM_011537476.1:c.1055A>T	XP_011535778.1:p.Glu352Val
XM_011537477.1:c.1364A>T	XP_011535779.1:p.Glu455Val
XM_006719963.3:c.1199A>T	XP_006720026.2:p.Glu400Val
XM_011537474.2:c.1448A>T	XP_011535776.2:p.Glu483Val
XM_011537475.2:c.1262A>T	XP_011535777.2:p.Glu421Val
XM_011537476.2:c.1055A>T	XP_011535778.1:p.Glu352Val
NM_019616.4:c.1295A>T MANE Select	NP_062562.1:p.Glu432Val
NR_051961.2:n.1379A>T
NM_001267554.2:c.1109A>T	NP_001254483.1:p.Glu370Val