Canonical Allele Identifier: CA388782456

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768253G>C (hg19) ; chr13:g.113113939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113939G>C , CM000675.2:g.113113939G>C	GRCh38
NC_000013.10:g.113768253G>C , CM000675.1:g.113768253G>C	GRCh37
NC_000013.9:g.112816254G>C	NCBI36
NG_009262.1:g.13149G>C , LRG_554:g.13149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.343G>C MANE Select	ENSP00000329546.4:p.Glu115Gln
ENST00000346342.7:c.343G>C	ENSP00000329546.3:p.Glu115Gln
ENST00000375581.3:c.409G>C	ENSP00000364731.3:p.Glu137Gln
ENST00000444337.1:c.*151G>C	ENSP00000387669.1:n.*151G>C
ENST00000473085.1:n.290G>C
ENST00000479674.1:n.676G>C
ENST00000541084.5:c.157G>C	ENSP00000442051.2:p.Glu53Gln
NM_000131.4:c.409G>C , LRG_554t1:c.409G>C	NP_000122.1:p.Glu137Gln
NM_001267554.1:c.157G>C	NP_001254483.1:p.Glu53Gln
NM_019616.3:c.343G>C , LRG_554t2:c.343G>C	NP_062562.1:p.Glu115Gln
NR_051961.1:n.430G>C
XM_006719963.2:c.343G>C	XP_006720026.1:p.Glu115Gln
XM_011537474.1:c.343G>C	XP_011535776.1:p.Glu115Gln
XM_011537475.1:c.157G>C	XP_011535777.1:p.Glu53Gln
XM_011537477.1:c.304G>C	XP_011535779.1:p.Glu102Gln
XM_006719963.3:c.388G>C	XP_006720026.2:p.Glu130Gln
XM_011537474.2:c.388G>C	XP_011535776.2:p.Glu130Gln
XM_011537475.2:c.202G>C	XP_011535777.2:p.Glu68Gln
NM_019616.4:c.343G>C MANE Select	NP_062562.1:p.Glu115Gln
NR_051961.2:n.427G>C
NM_001267554.2:c.157G>C	NP_001254483.1:p.Glu53Gln