Canonical Allele Identifier: CA388782414

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768242T>A (hg19) ; chr13:g.113113928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113928T>A , CM000675.2:g.113113928T>A	GRCh38
NC_000013.10:g.113768242T>A , CM000675.1:g.113768242T>A	GRCh37
NC_000013.9:g.112816243T>A	NCBI36
NG_009262.1:g.13138T>A , LRG_554:g.13138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.332T>A MANE Select	ENSP00000329546.4:p.Leu111His
ENST00000346342.7:c.332T>A	ENSP00000329546.3:p.Leu111His
ENST00000375581.3:c.398T>A	ENSP00000364731.3:p.Leu133His
ENST00000444337.1:c.*140T>A	ENSP00000387669.1:n.*140T>A
ENST00000473085.1:n.279T>A
ENST00000479674.1:n.665T>A
ENST00000541084.5:c.146T>A	ENSP00000442051.2:p.Leu49His
NM_000131.4:c.398T>A , LRG_554t1:c.398T>A	NP_000122.1:p.Leu133His
NM_001267554.1:c.146T>A	NP_001254483.1:p.Leu49His
NM_019616.3:c.332T>A , LRG_554t2:c.332T>A	NP_062562.1:p.Leu111His
NR_051961.1:n.419T>A
XM_006719963.2:c.332T>A	XP_006720026.1:p.Leu111His
XM_011537474.1:c.332T>A	XP_011535776.1:p.Leu111His
XM_011537475.1:c.146T>A	XP_011535777.1:p.Leu49His
XM_011537477.1:c.293T>A	XP_011535779.1:p.Leu98His
XM_006719963.3:c.377T>A	XP_006720026.2:p.Leu126His
XM_011537474.2:c.377T>A	XP_011535776.2:p.Leu126His
XM_011537475.2:c.191T>A	XP_011535777.2:p.Leu64His
NM_019616.4:c.332T>A MANE Select	NP_062562.1:p.Leu111His
NR_051961.2:n.416T>A
NM_001267554.2:c.146T>A	NP_001254483.1:p.Leu49His