Canonical Allele Identifier: CA388782416

Gene: F7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.332T>G MANE Select	ENSP00000329546.4:p.Leu111Arg
ENST00000346342.7:c.332T>G	ENSP00000329546.3:p.Leu111Arg
ENST00000375581.3:c.398T>G	ENSP00000364731.3:p.Leu133Arg
ENST00000444337.1:c.*140T>G	ENSP00000387669.1:n.*140T>G
ENST00000473085.1:n.279T>G
ENST00000479674.1:n.665T>G
ENST00000541084.5:c.146T>G	ENSP00000442051.2:p.Leu49Arg
NM_000131.4:c.398T>G , LRG_554t1:c.398T>G	NP_000122.1:p.Leu133Arg
NM_001267554.1:c.146T>G	NP_001254483.1:p.Leu49Arg
NM_019616.3:c.332T>G , LRG_554t2:c.332T>G	NP_062562.1:p.Leu111Arg
NR_051961.1:n.419T>G
XM_006719963.2:c.332T>G	XP_006720026.1:p.Leu111Arg
XM_011537474.1:c.332T>G	XP_011535776.1:p.Leu111Arg
XM_011537475.1:c.146T>G	XP_011535777.1:p.Leu49Arg
XM_011537477.1:c.293T>G	XP_011535779.1:p.Leu98Arg
XM_006719963.3:c.377T>G	XP_006720026.2:p.Leu126Arg
XM_011537474.2:c.377T>G	XP_011535776.2:p.Leu126Arg
XM_011537475.2:c.191T>G	XP_011535777.2:p.Leu64Arg
NM_019616.4:c.332T>G MANE Select	NP_062562.1:p.Leu111Arg
NR_051961.2:n.416T>G
NM_001267554.2:c.146T>G	NP_001254483.1:p.Leu49Arg