Canonical Allele Identifier: CA388787234

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773316T>G (hg19) ; chr13:g.113119002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119002T>G , CM000675.2:g.113119002T>G	GRCh38
NC_000013.10:g.113773316T>G , CM000675.1:g.113773316T>G	GRCh37
NC_000013.9:g.112821317T>G	NCBI36
NG_009258.1:g.1204T>G , LRG_548:g.1204T>G
NG_009262.1:g.18212T>G , LRG_554:g.18212T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1329T>G MANE Select	ENSP00000329546.4:p.Phe443Leu
ENST00000346342.7:c.1329T>G	ENSP00000329546.3:p.Phe443Leu
ENST00000375581.3:c.1395T>G	ENSP00000364731.3:p.Phe465Leu
ENST00000541084.5:c.1143T>G	ENSP00000442051.2:p.Phe381Leu
NM_000131.4:c.1395T>G , LRG_554t1:c.1395T>G	NP_000122.1:p.Phe465Leu
NM_001267554.1:c.1143T>G	NP_001254483.1:p.Phe381Leu
NM_019616.3:c.1329T>G , LRG_554t2:c.1329T>G	NP_062562.1:p.Phe443Leu
NR_051961.1:n.1416T>G
XM_006719963.2:c.1188T>G	XP_006720026.1:p.Phe396Leu
XM_011537474.1:c.1437T>G	XP_011535776.1:p.Phe479Leu
XM_011537475.1:c.1251T>G	XP_011535777.1:p.Phe417Leu
XM_011537476.1:c.1089T>G	XP_011535778.1:p.Phe363Leu
XM_011537477.1:c.1398T>G	XP_011535779.1:p.Phe466Leu
XM_006719963.3:c.1233T>G	XP_006720026.2:p.Phe411Leu
XM_011537474.2:c.1482T>G	XP_011535776.2:p.Phe494Leu
XM_011537475.2:c.1296T>G	XP_011535777.2:p.Phe432Leu
XM_011537476.2:c.1089T>G	XP_011535778.1:p.Phe363Leu
NM_019616.4:c.1329T>G MANE Select	NP_062562.1:p.Phe443Leu
NR_051961.2:n.1413T>G
NM_001267554.2:c.1143T>G	NP_001254483.1:p.Phe381Leu