Canonical Allele Identifier: CA7059922

Gene: F7

Linked Data

• dbSNP Id: rs150525536
• ExAC: 13:113768260 G / A
• gnomAD v2: 13-113768260-G-A
• gnomAD v3: 13-113113946-G-A
• gnomAD v4: 13-113113946-G-A
• MyVariant Identifiers: chr13:g.113768260G>A (hg19) ; chr13:g.113113946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113946G>A , CM000675.2:g.113113946G>A	GRCh38
NC_000013.10:g.113768260G>A , CM000675.1:g.113768260G>A	GRCh37
NC_000013.9:g.112816261G>A	NCBI36
NG_009262.1:g.13156G>A , LRG_554:g.13156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.350G>A MANE Select	ENSP00000329546.4:p.Arg117Gln
ENST00000346342.7:c.350G>A	ENSP00000329546.3:p.Arg117Gln
ENST00000375581.3:c.416G>A	ENSP00000364731.3:p.Arg139Gln
ENST00000444337.1:c.*158G>A	ENSP00000387669.1:n.*158G>A
ENST00000473085.1:n.297G>A
ENST00000479674.1:n.683G>A
ENST00000541084.5:c.164G>A	ENSP00000442051.2:p.Arg55Gln
NM_000131.4:c.416G>A , LRG_554t1:c.416G>A	NP_000122.1:p.Arg139Gln
NM_001267554.1:c.164G>A	NP_001254483.1:p.Arg55Gln
NM_019616.3:c.350G>A , LRG_554t2:c.350G>A	NP_062562.1:p.Arg117Gln
NR_051961.1:n.437G>A
XM_006719963.2:c.350G>A	XP_006720026.1:p.Arg117Gln
XM_011537474.1:c.350G>A	XP_011535776.1:p.Arg117Gln
XM_011537475.1:c.164G>A	XP_011535777.1:p.Arg55Gln
XM_011537477.1:c.311G>A	XP_011535779.1:p.Arg104Gln
XM_006719963.3:c.395G>A	XP_006720026.2:p.Arg132Gln
XM_011537474.2:c.395G>A	XP_011535776.2:p.Arg132Gln
XM_011537475.2:c.209G>A	XP_011535777.2:p.Arg70Gln
NM_019616.4:c.350G>A MANE Select	NP_062562.1:p.Arg117Gln
NR_051961.2:n.434G>A
NM_001267554.2:c.164G>A	NP_001254483.1:p.Arg55Gln