Canonical Allele Identifier: CA388782493
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113113946G>T , CM000675.2:g.113113946G>T GRCh38
NC_000013.10:g.113768260G>T , CM000675.1:g.113768260G>T GRCh37
NC_000013.9:g.112816261G>T NCBI36
NG_009262.1:g.13156G>T , LRG_554:g.13156G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.350G>T MANE Select ENSP00000329546.4:p.Arg117Leu
ENST00000346342.7:c.350G>T ENSP00000329546.3:p.Arg117Leu
ENST00000375581.3:c.416G>T ENSP00000364731.3:p.Arg139Leu
ENST00000444337.1:c.*158G>T ENSP00000387669.1:n.*158G>T
ENST00000473085.1:n.297G>T
ENST00000479674.1:n.683G>T
ENST00000541084.5:c.164G>T ENSP00000442051.2:p.Arg55Leu
NM_000131.4:c.416G>T , LRG_554t1:c.416G>T NP_000122.1:p.Arg139Leu
NM_001267554.1:c.164G>T NP_001254483.1:p.Arg55Leu
NM_019616.3:c.350G>T , LRG_554t2:c.350G>T NP_062562.1:p.Arg117Leu
NR_051961.1:n.437G>T
XM_006719963.2:c.350G>T XP_006720026.1:p.Arg117Leu
XM_011537474.1:c.350G>T XP_011535776.1:p.Arg117Leu
XM_011537475.1:c.164G>T XP_011535777.1:p.Arg55Leu
XM_011537477.1:c.311G>T XP_011535779.1:p.Arg104Leu
XM_006719963.3:c.395G>T XP_006720026.2:p.Arg132Leu
XM_011537474.2:c.395G>T XP_011535776.2:p.Arg132Leu
XM_011537475.2:c.209G>T XP_011535777.2:p.Arg70Leu
NM_019616.4:c.350G>T MANE Select NP_062562.1:p.Arg117Leu
NR_051961.2:n.434G>T
NM_001267554.2:c.164G>T NP_001254483.1:p.Arg55Leu