Canonical Allele Identifier: CA388786357

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773029T>C (hg19) ; chr13:g.113118715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118715T>C , CM000675.2:g.113118715T>C	GRCh38
NC_000013.10:g.113773029T>C , CM000675.1:g.113773029T>C	GRCh37
NC_000013.9:g.112821030T>C	NCBI36
NG_009258.1:g.917T>C , LRG_548:g.917T>C
NG_009262.1:g.17925T>C , LRG_554:g.17925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1042T>C MANE Select	ENSP00000329546.4:p.Cys348Arg
ENST00000346342.7:c.1042T>C	ENSP00000329546.3:p.Cys348Arg
ENST00000375581.3:c.1108T>C	ENSP00000364731.3:p.Cys370Arg
ENST00000541084.5:c.856T>C	ENSP00000442051.2:p.Cys286Arg
NM_000131.4:c.1108T>C , LRG_554t1:c.1108T>C	NP_000122.1:p.Cys370Arg
NM_001267554.1:c.856T>C	NP_001254483.1:p.Cys286Arg
NM_019616.3:c.1042T>C , LRG_554t2:c.1042T>C	NP_062562.1:p.Cys348Arg
NR_051961.1:n.1129T>C
XM_006719963.2:c.901T>C	XP_006720026.1:p.Cys301Arg
XM_011537474.1:c.1150T>C	XP_011535776.1:p.Cys384Arg
XM_011537475.1:c.964T>C	XP_011535777.1:p.Cys322Arg
XM_011537476.1:c.802T>C	XP_011535778.1:p.Cys268Arg
XM_011537477.1:c.1111T>C	XP_011535779.1:p.Cys371Arg
XM_006719963.3:c.946T>C	XP_006720026.2:p.Cys316Arg
XM_011537474.2:c.1195T>C	XP_011535776.2:p.Cys399Arg
XM_011537475.2:c.1009T>C	XP_011535777.2:p.Cys337Arg
XM_011537476.2:c.802T>C	XP_011535778.1:p.Cys268Arg
NM_019616.4:c.1042T>C MANE Select	NP_062562.1:p.Cys348Arg
NR_051961.2:n.1126T>C
NM_001267554.2:c.856T>C	NP_001254483.1:p.Cys286Arg