Canonical Allele Identifier: CA7060132

Gene: F7

Linked Data

• dbSNP Id: rs755896797
• ExAC: 13:113772746 G / A
• gnomAD v2: 13-113772746-G-A
• gnomAD v4: 13-113118432-G-A
• MyVariant Identifiers: chr13:g.113772746G>A (hg19) ; chr13:g.113118432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118432G>A , CM000675.2:g.113118432G>A	GRCh38
NC_000013.10:g.113772746G>A , CM000675.1:g.113772746G>A	GRCh37
NC_000013.9:g.112820747G>A	NCBI36
NG_009258.1:g.634G>A , LRG_548:g.634G>A
NG_009262.1:g.17642G>A , LRG_554:g.17642G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.759G>A MANE Select	ENSP00000329546.4:p.Glu253=
ENST00000346342.7:c.759G>A	ENSP00000329546.3:p.Glu253=
ENST00000375581.3:c.825G>A	ENSP00000364731.3:p.Glu275=
ENST00000541084.5:c.573G>A	ENSP00000442051.2:p.Glu191=
NM_000131.4:c.825G>A , LRG_554t1:c.825G>A	NP_000122.1:p.Glu275=
NM_001267554.1:c.573G>A	NP_001254483.1:p.Glu191=
NM_019616.3:c.759G>A , LRG_554t2:c.759G>A	NP_062562.1:p.Glu253=
NR_051961.1:n.846G>A
XM_006719963.2:c.618G>A	XP_006720026.1:p.Glu206=
XM_011537474.1:c.867G>A	XP_011535776.1:p.Glu289=
XM_011537475.1:c.681G>A	XP_011535777.1:p.Glu227=
XM_011537476.1:c.519G>A	XP_011535778.1:p.Glu173=
XM_011537477.1:c.828G>A	XP_011535779.1:p.Glu276=
XM_006719963.3:c.663G>A	XP_006720026.2:p.Glu221=
XM_011537474.2:c.912G>A	XP_011535776.2:p.Glu304=
XM_011537475.2:c.726G>A	XP_011535777.2:p.Glu242=
XM_011537476.2:c.519G>A	XP_011535778.1:p.Glu173=
NM_019616.4:c.759G>A MANE Select	NP_062562.1:p.Glu253=
NR_051961.2:n.843G>A
NM_001267554.2:c.573G>A	NP_001254483.1:p.Glu191=