Canonical Allele Identifier: CA388782399

Gene: F7

Linked Data

• dbSNP Id: rs2036148539
• MyVariant Identifiers: chr13:g.113768238T>C (hg19) ; chr13:g.113113924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113924T>C , CM000675.2:g.113113924T>C	GRCh38
NC_000013.10:g.113768238T>C , CM000675.1:g.113768238T>C	GRCh37
NC_000013.9:g.112816239T>C	NCBI36
NG_009262.1:g.13134T>C , LRG_554:g.13134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.328T>C MANE Select	ENSP00000329546.4:p.Cys110Arg
ENST00000346342.7:c.328T>C	ENSP00000329546.3:p.Cys110Arg
ENST00000375581.3:c.394T>C	ENSP00000364731.3:p.Cys132Arg
ENST00000444337.1:c.*136T>C	ENSP00000387669.1:n.*136T>C
ENST00000473085.1:n.275T>C
ENST00000479674.1:n.661T>C
ENST00000541084.5:c.142T>C	ENSP00000442051.2:p.Cys48Arg
NM_000131.4:c.394T>C , LRG_554t1:c.394T>C	NP_000122.1:p.Cys132Arg
NM_001267554.1:c.142T>C	NP_001254483.1:p.Cys48Arg
NM_019616.3:c.328T>C , LRG_554t2:c.328T>C	NP_062562.1:p.Cys110Arg
NR_051961.1:n.415T>C
XM_006719963.2:c.328T>C	XP_006720026.1:p.Cys110Arg
XM_011537474.1:c.328T>C	XP_011535776.1:p.Cys110Arg
XM_011537475.1:c.142T>C	XP_011535777.1:p.Cys48Arg
XM_011537477.1:c.289T>C	XP_011535779.1:p.Cys97Arg
XM_006719963.3:c.373T>C	XP_006720026.2:p.Cys125Arg
XM_011537474.2:c.373T>C	XP_011535776.2:p.Cys125Arg
XM_011537475.2:c.187T>C	XP_011535777.2:p.Cys63Arg
NM_019616.4:c.328T>C MANE Select	NP_062562.1:p.Cys110Arg
NR_051961.2:n.412T>C
NM_001267554.2:c.142T>C	NP_001254483.1:p.Cys48Arg