Canonical Allele Identifier: CA388785853

Gene: F7

Linked Data

• dbSNP Id: rs1325590499
• gnomAD v4: 13-113118453-C-A
• MyVariant Identifiers: chr13:g.113772767C>A (hg19) ; chr13:g.113118453C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118453C>A , CM000675.2:g.113118453C>A	GRCh38
NC_000013.10:g.113772767C>A , CM000675.1:g.113772767C>A	GRCh37
NC_000013.9:g.112820768C>A	NCBI36
NG_009258.1:g.655C>A , LRG_548:g.655C>A
NG_009262.1:g.17663C>A , LRG_554:g.17663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.780C>A MANE Select	ENSP00000329546.4:p.Ser260Arg
ENST00000346342.7:c.780C>A	ENSP00000329546.3:p.Ser260Arg
ENST00000375581.3:c.846C>A	ENSP00000364731.3:p.Ser282Arg
ENST00000541084.5:c.594C>A	ENSP00000442051.2:p.Ser198Arg
NM_000131.4:c.846C>A , LRG_554t1:c.846C>A	NP_000122.1:p.Ser282Arg
NM_001267554.1:c.594C>A	NP_001254483.1:p.Ser198Arg
NM_019616.3:c.780C>A , LRG_554t2:c.780C>A	NP_062562.1:p.Ser260Arg
NR_051961.1:n.867C>A
XM_006719963.2:c.639C>A	XP_006720026.1:p.Ser213Arg
XM_011537474.1:c.888C>A	XP_011535776.1:p.Ser296Arg
XM_011537475.1:c.702C>A	XP_011535777.1:p.Ser234Arg
XM_011537476.1:c.540C>A	XP_011535778.1:p.Ser180Arg
XM_011537477.1:c.849C>A	XP_011535779.1:p.Ser283Arg
XM_006719963.3:c.684C>A	XP_006720026.2:p.Ser228Arg
XM_011537474.2:c.933C>A	XP_011535776.2:p.Ser311Arg
XM_011537475.2:c.747C>A	XP_011535777.2:p.Ser249Arg
XM_011537476.2:c.540C>A	XP_011535778.1:p.Ser180Arg
NM_019616.4:c.780C>A MANE Select	NP_062562.1:p.Ser260Arg
NR_051961.2:n.864C>A
NM_001267554.2:c.594C>A	NP_001254483.1:p.Ser198Arg