Canonical Allele Identifier: CA960397064

Gene: F7

Linked Data

• dbSNP Id: rs2036236900
• gnomAD v3: 13-113118484-A-AC
• gnomAD v4: 13-113118484-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118485dup , CM000675.2:g.113118485dup	GRCh38
NC_000013.10:g.113772799dup , CM000675.1:g.113772799dup	GRCh37
NC_000013.9:g.112820800dup	NCBI36
NG_009258.1:g.687dup , LRG_548:g.687dup
NG_009262.1:g.17695dup , LRG_554:g.17695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.812dup MANE Select	ENSP00000329546.4:p.Tyr272ValfsTer23
ENST00000346342.7:c.812dup	ENSP00000329546.3:p.Tyr272ValfsTer23
ENST00000375581.3:c.878dup	ENSP00000364731.3:p.Tyr294ValfsTer23
ENST00000541084.5:c.626dup	ENSP00000442051.2:p.Tyr210ValfsTer23
NM_000131.4:c.878dup , LRG_554t1:c.878dup	NP_000122.1:p.Tyr294ValfsTer23
NM_001267554.1:c.626dup	NP_001254483.1:p.Tyr210ValfsTer23
NM_019616.3:c.812dup , LRG_554t2:c.812dup	NP_062562.1:p.Tyr272ValfsTer23
NR_051961.1:n.899dup
XM_006719963.2:c.671dup	XP_006720026.1:p.Tyr225ValfsTer23
XM_011537474.1:c.920dup	XP_011535776.1:p.Tyr308ValfsTer23
XM_011537475.1:c.734dup	XP_011535777.1:p.Tyr246ValfsTer23
XM_011537476.1:c.572dup	XP_011535778.1:p.Tyr192ValfsTer23
XM_011537477.1:c.881dup	XP_011535779.1:p.Tyr295ValfsTer23
XM_006719963.3:c.716dup	XP_006720026.2:p.Tyr240ValfsTer23
XM_011537474.2:c.965dup	XP_011535776.2:p.Tyr323ValfsTer23
XM_011537475.2:c.779dup	XP_011535777.2:p.Tyr261ValfsTer23
XM_011537476.2:c.572dup	XP_011535778.1:p.Tyr192ValfsTer23
NM_019616.4:c.812dup MANE Select	NP_062562.1:p.Tyr272ValfsTer23
NR_051961.2:n.896dup
NM_001267554.2:c.626dup	NP_001254483.1:p.Tyr210ValfsTer23