Canonical Allele Identifier: CA7060139

Gene: F7

Linked Data

• dbSNP Id: rs780107032
• ExAC: 13:113772761 G / A
• gnomAD v2: 13-113772761-G-A
• gnomAD v4: 13-113118447-G-A
• MyVariant Identifiers: chr13:g.113772761G>A (hg19) ; chr13:g.113118447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118447G>A , CM000675.2:g.113118447G>A	GRCh38
NC_000013.10:g.113772761G>A , CM000675.1:g.113772761G>A	GRCh37
NC_000013.9:g.112820762G>A	NCBI36
NG_009258.1:g.649G>A , LRG_548:g.649G>A
NG_009262.1:g.17657G>A , LRG_554:g.17657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.774G>A MANE Select	ENSP00000329546.4:p.Glu258=
ENST00000346342.7:c.774G>A	ENSP00000329546.3:p.Glu258=
ENST00000375581.3:c.840G>A	ENSP00000364731.3:p.Glu280=
ENST00000541084.5:c.588G>A	ENSP00000442051.2:p.Glu196=
NM_000131.4:c.840G>A , LRG_554t1:c.840G>A	NP_000122.1:p.Glu280=
NM_001267554.1:c.588G>A	NP_001254483.1:p.Glu196=
NM_019616.3:c.774G>A , LRG_554t2:c.774G>A	NP_062562.1:p.Glu258=
NR_051961.1:n.861G>A
XM_006719963.2:c.633G>A	XP_006720026.1:p.Glu211=
XM_011537474.1:c.882G>A	XP_011535776.1:p.Glu294=
XM_011537475.1:c.696G>A	XP_011535777.1:p.Glu232=
XM_011537476.1:c.534G>A	XP_011535778.1:p.Glu178=
XM_011537477.1:c.843G>A	XP_011535779.1:p.Glu281=
XM_006719963.3:c.678G>A	XP_006720026.2:p.Glu226=
XM_011537474.2:c.927G>A	XP_011535776.2:p.Glu309=
XM_011537475.2:c.741G>A	XP_011535777.2:p.Glu247=
XM_011537476.2:c.534G>A	XP_011535778.1:p.Glu178=
NM_019616.4:c.774G>A MANE Select	NP_062562.1:p.Glu258=
NR_051961.2:n.858G>A
NM_001267554.2:c.588G>A	NP_001254483.1:p.Glu196=