Canonical Allele Identifier: CA388782441
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113113936T>A , CM000675.2:g.113113936T>A GRCh38
NC_000013.10:g.113768250T>A , CM000675.1:g.113768250T>A GRCh37
NC_000013.9:g.112816251T>A NCBI36
NG_009262.1:g.13146T>A , LRG_554:g.13146T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.340T>A MANE Select ENSP00000329546.4:p.Phe114Ile
ENST00000346342.7:c.340T>A ENSP00000329546.3:p.Phe114Ile
ENST00000375581.3:c.406T>A ENSP00000364731.3:p.Phe136Ile
ENST00000444337.1:c.*148T>A ENSP00000387669.1:n.*148T>A
ENST00000473085.1:n.287T>A
ENST00000479674.1:n.673T>A
ENST00000541084.5:c.154T>A ENSP00000442051.2:p.Phe52Ile
NM_000131.4:c.406T>A , LRG_554t1:c.406T>A NP_000122.1:p.Phe136Ile
NM_001267554.1:c.154T>A NP_001254483.1:p.Phe52Ile
NM_019616.3:c.340T>A , LRG_554t2:c.340T>A NP_062562.1:p.Phe114Ile
NR_051961.1:n.427T>A
XM_006719963.2:c.340T>A XP_006720026.1:p.Phe114Ile
XM_011537474.1:c.340T>A XP_011535776.1:p.Phe114Ile
XM_011537475.1:c.154T>A XP_011535777.1:p.Phe52Ile
XM_011537477.1:c.301T>A XP_011535779.1:p.Phe101Ile
XM_006719963.3:c.385T>A XP_006720026.2:p.Phe129Ile
XM_011537474.2:c.385T>A XP_011535776.2:p.Phe129Ile
XM_011537475.2:c.199T>A XP_011535777.2:p.Phe67Ile
NM_019616.4:c.340T>A MANE Select NP_062562.1:p.Phe114Ile
NR_051961.2:n.424T>A
NM_001267554.2:c.154T>A NP_001254483.1:p.Phe52Ile