Canonical Allele Identifier: CA388785979

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772835T>G (hg19) ; chr13:g.113118521T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118521T>G , CM000675.2:g.113118521T>G	GRCh38
NC_000013.10:g.113772835T>G , CM000675.1:g.113772835T>G	GRCh37
NC_000013.9:g.112820836T>G	NCBI36
NG_009258.1:g.723T>G , LRG_548:g.723T>G
NG_009262.1:g.17731T>G , LRG_554:g.17731T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.848T>G MANE Select	ENSP00000329546.4:p.Leu283Arg
ENST00000346342.7:c.848T>G	ENSP00000329546.3:p.Leu283Arg
ENST00000375581.3:c.914T>G	ENSP00000364731.3:p.Leu305Arg
ENST00000541084.5:c.662T>G	ENSP00000442051.2:p.Leu221Arg
NM_000131.4:c.914T>G , LRG_554t1:c.914T>G	NP_000122.1:p.Leu305Arg
NM_001267554.1:c.662T>G	NP_001254483.1:p.Leu221Arg
NM_019616.3:c.848T>G , LRG_554t2:c.848T>G	NP_062562.1:p.Leu283Arg
NR_051961.1:n.935T>G
XM_006719963.2:c.707T>G	XP_006720026.1:p.Leu236Arg
XM_011537474.1:c.956T>G	XP_011535776.1:p.Leu319Arg
XM_011537475.1:c.770T>G	XP_011535777.1:p.Leu257Arg
XM_011537476.1:c.608T>G	XP_011535778.1:p.Leu203Arg
XM_011537477.1:c.917T>G	XP_011535779.1:p.Leu306Arg
XM_006719963.3:c.752T>G	XP_006720026.2:p.Leu251Arg
XM_011537474.2:c.1001T>G	XP_011535776.2:p.Leu334Arg
XM_011537475.2:c.815T>G	XP_011535777.2:p.Leu272Arg
XM_011537476.2:c.608T>G	XP_011535778.1:p.Leu203Arg
NM_019616.4:c.848T>G MANE Select	NP_062562.1:p.Leu283Arg
NR_051961.2:n.932T>G
NM_001267554.2:c.662T>G	NP_001254483.1:p.Leu221Arg