Canonical Allele Identifier: CA388782518

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768266G>A (hg19) ; chr13:g.113113952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113952G>A , CM000675.2:g.113113952G>A	GRCh38
NC_000013.10:g.113768266G>A , CM000675.1:g.113768266G>A	GRCh37
NC_000013.9:g.112816267G>A	NCBI36
NG_009262.1:g.13162G>A , LRG_554:g.13162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.356G>A MANE Select	ENSP00000329546.4:p.Cys119Tyr
ENST00000346342.7:c.356G>A	ENSP00000329546.3:p.Cys119Tyr
ENST00000375581.3:c.422G>A	ENSP00000364731.3:p.Cys141Tyr
ENST00000444337.1:c.*164G>A	ENSP00000387669.1:n.*164G>A
ENST00000473085.1:n.303G>A
ENST00000479674.1:n.689G>A
ENST00000541084.5:c.170G>A	ENSP00000442051.2:p.Cys57Tyr
NM_000131.4:c.422G>A , LRG_554t1:c.422G>A	NP_000122.1:p.Cys141Tyr
NM_001267554.1:c.170G>A	NP_001254483.1:p.Cys57Tyr
NM_019616.3:c.356G>A , LRG_554t2:c.356G>A	NP_062562.1:p.Cys119Tyr
NR_051961.1:n.443G>A
XM_006719963.2:c.356G>A	XP_006720026.1:p.Cys119Tyr
XM_011537474.1:c.356G>A	XP_011535776.1:p.Cys119Tyr
XM_011537475.1:c.170G>A	XP_011535777.1:p.Cys57Tyr
XM_011537477.1:c.317G>A	XP_011535779.1:p.Cys106Tyr
XM_006719963.3:c.401G>A	XP_006720026.2:p.Cys134Tyr
XM_011537474.2:c.401G>A	XP_011535776.2:p.Cys134Tyr
XM_011537475.2:c.215G>A	XP_011535777.2:p.Cys72Tyr
NM_019616.4:c.356G>A MANE Select	NP_062562.1:p.Cys119Tyr
NR_051961.2:n.440G>A
NM_001267554.2:c.170G>A	NP_001254483.1:p.Cys57Tyr