Canonical Allele Identifier: CA256454525

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113110777T>A , CM000675.2:g.113110777T>A	GRCh38
NC_000013.10:g.113765091T>A , CM000675.1:g.113765091T>A	GRCh37
NC_000013.9:g.112813092T>A	NCBI36
NG_009262.1:g.9987T>A , LRG_554:g.9987T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019616.4:c.152T>A MANE Select	NP_062562.1:p.Leu51Gln
ENST00000346342.8:c.152T>A MANE Select	ENSP00000329546.4:p.Leu51Gln
NM_000131.4:c.218T>A , LRG_554t1:c.218T>A	NP_000122.1:p.Leu73Gln
NM_001267554.1:c.65-3070T>A	NP_001254483.1:n.65-3070T>A
NM_001267554.2:c.65-3070T>A	NP_001254483.1:n.65-3070T>A
NM_019616.3:c.152T>A , LRG_554t2:c.152T>A	NP_062562.1:p.Leu51Gln
NR_051961.1:n.192T>A
NR_051961.2:n.189T>A
ENST00000346342.7:c.152T>A	ENSP00000329546.3:p.Leu51Gln
ENST00000375581.3:c.218T>A	ENSP00000364731.3:p.Leu73Gln
ENST00000444337.1:c.138T>A	ENSP00000387669.1:p.Pro46=
ENST00000473085.1:n.99T>A
ENST00000479674.1:n.438T>A
ENST00000541084.5:c.65-3070T>A	ENSP00000442051.2:n.65-3070T>A
XM_006719963.2:c.152T>A	XP_006720026.1:p.Leu51Gln
XM_006719963.3:c.197T>A	XP_006720026.2:p.Leu66Gln
XM_011537474.1:c.152T>A	XP_011535776.1:p.Leu51Gln
XM_011537474.2:c.197T>A	XP_011535776.2:p.Leu66Gln
XM_011537475.1:c.65-3070T>A	XP_011535777.1:n.65-3070T>A
XM_011537475.2:c.110-3070T>A	XP_011535777.2:n.110-3070T>A
XM_011537477.1:c.138T>A	XP_011535779.1:p.Pro46=