Canonical Allele Identifier: CA388786284

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772991T>G (hg19) ; chr13:g.113118677T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118677T>G , CM000675.2:g.113118677T>G	GRCh38
NC_000013.10:g.113772991T>G , CM000675.1:g.113772991T>G	GRCh37
NC_000013.9:g.112820992T>G	NCBI36
NG_009258.1:g.879T>G , LRG_548:g.879T>G
NG_009262.1:g.17887T>G , LRG_554:g.17887T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1004T>G MANE Select	ENSP00000329546.4:p.Leu335Arg
ENST00000346342.7:c.1004T>G	ENSP00000329546.3:p.Leu335Arg
ENST00000375581.3:c.1070T>G	ENSP00000364731.3:p.Leu357Arg
ENST00000541084.5:c.818T>G	ENSP00000442051.2:p.Leu273Arg
NM_000131.4:c.1070T>G , LRG_554t1:c.1070T>G	NP_000122.1:p.Leu357Arg
NM_001267554.1:c.818T>G	NP_001254483.1:p.Leu273Arg
NM_019616.3:c.1004T>G , LRG_554t2:c.1004T>G	NP_062562.1:p.Leu335Arg
NR_051961.1:n.1091T>G
XM_006719963.2:c.863T>G	XP_006720026.1:p.Leu288Arg
XM_011537474.1:c.1112T>G	XP_011535776.1:p.Leu371Arg
XM_011537475.1:c.926T>G	XP_011535777.1:p.Leu309Arg
XM_011537476.1:c.764T>G	XP_011535778.1:p.Leu255Arg
XM_011537477.1:c.1073T>G	XP_011535779.1:p.Leu358Arg
XM_006719963.3:c.908T>G	XP_006720026.2:p.Leu303Arg
XM_011537474.2:c.1157T>G	XP_011535776.2:p.Leu386Arg
XM_011537475.2:c.971T>G	XP_011535777.2:p.Leu324Arg
XM_011537476.2:c.764T>G	XP_011535778.1:p.Leu255Arg
NM_019616.4:c.1004T>G MANE Select	NP_062562.1:p.Leu335Arg
NR_051961.2:n.1088T>G
NM_001267554.2:c.818T>G	NP_001254483.1:p.Leu273Arg