Canonical Allele Identifier: CA388782400

Gene: F7

Linked Data

• gnomAD v4: 13-113113925-G-A
• MyVariant Identifiers: chr13:g.113768239G>A (hg19) ; chr13:g.113113925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113925G>A , CM000675.2:g.113113925G>A	GRCh38
NC_000013.10:g.113768239G>A , CM000675.1:g.113768239G>A	GRCh37
NC_000013.9:g.112816240G>A	NCBI36
NG_009262.1:g.13135G>A , LRG_554:g.13135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.329G>A MANE Select	ENSP00000329546.4:p.Cys110Tyr
ENST00000346342.7:c.329G>A	ENSP00000329546.3:p.Cys110Tyr
ENST00000375581.3:c.395G>A	ENSP00000364731.3:p.Cys132Tyr
ENST00000444337.1:c.*137G>A	ENSP00000387669.1:n.*137G>A
ENST00000473085.1:n.276G>A
ENST00000479674.1:n.662G>A
ENST00000541084.5:c.143G>A	ENSP00000442051.2:p.Cys48Tyr
NM_000131.4:c.395G>A , LRG_554t1:c.395G>A	NP_000122.1:p.Cys132Tyr
NM_001267554.1:c.143G>A	NP_001254483.1:p.Cys48Tyr
NM_019616.3:c.329G>A , LRG_554t2:c.329G>A	NP_062562.1:p.Cys110Tyr
NR_051961.1:n.416G>A
XM_006719963.2:c.329G>A	XP_006720026.1:p.Cys110Tyr
XM_011537474.1:c.329G>A	XP_011535776.1:p.Cys110Tyr
XM_011537475.1:c.143G>A	XP_011535777.1:p.Cys48Tyr
XM_011537477.1:c.290G>A	XP_011535779.1:p.Cys97Tyr
XM_006719963.3:c.374G>A	XP_006720026.2:p.Cys125Tyr
XM_011537474.2:c.374G>A	XP_011535776.2:p.Cys125Tyr
XM_011537475.2:c.188G>A	XP_011535777.2:p.Cys63Tyr
NM_019616.4:c.329G>A MANE Select	NP_062562.1:p.Cys110Tyr
NR_051961.2:n.413G>A
NM_001267554.2:c.143G>A	NP_001254483.1:p.Cys48Tyr