Canonical Allele Identifier: CA7060003

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113116777T>C , CM000675.2:g.113116777T>C	GRCh38
NC_000013.10:g.113771091T>C , CM000675.1:g.113771091T>C	GRCh37
NC_000013.9:g.112819092T>C	NCBI36
NG_009262.1:g.15987T>C , LRG_554:g.15987T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019616.4:c.517T>C MANE Select	NP_062562.1:p.Cys173Arg
ENST00000346342.8:c.517T>C MANE Select	ENSP00000329546.4:p.Cys173Arg
NM_000131.4:c.583T>C , LRG_554t1:c.583T>C	NP_000122.1:p.Cys195Arg
NM_001267554.1:c.331T>C	NP_001254483.1:p.Cys111Arg
NM_001267554.2:c.331T>C	NP_001254483.1:p.Cys111Arg
NM_019616.3:c.517T>C , LRG_554t2:c.517T>C	NP_062562.1:p.Cys173Arg
NR_051961.1:n.604T>C
NR_051961.2:n.601T>C
ENST00000346342.7:c.517T>C	ENSP00000329546.3:p.Cys173Arg
ENST00000375581.3:c.583T>C	ENSP00000364731.3:p.Cys195Arg
ENST00000444337.1:c.*325T>C	ENSP00000387669.1:n.*325T>C
ENST00000479674.1:n.709T>C
ENST00000541084.5:c.331T>C	ENSP00000442051.2:p.Cys111Arg
XM_006719963.2:c.376T>C	XP_006720026.1:p.Cys126Arg
XM_006719963.3:c.421T>C	XP_006720026.2:p.Cys141Arg
XM_011537474.1:c.625T>C	XP_011535776.1:p.Cys209Arg
XM_011537474.2:c.670T>C	XP_011535776.2:p.Cys224Arg
XM_011537475.1:c.439T>C	XP_011535777.1:p.Cys147Arg
XM_011537475.2:c.484T>C	XP_011535777.2:p.Cys162Arg
XM_011537476.1:c.277T>C	XP_011535778.1:p.Cys93Arg
XM_011537476.2:c.277T>C	XP_011535778.1:p.Cys93Arg
XM_011537477.1:c.586T>C	XP_011535779.1:p.Cys196Arg