Canonical Allele Identifier: CA388780715
Community Standard Title: NM_019616.4(F7):c.84A>T (p.Glu28Asp)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113110709A>T , CM000675.2:g.113110709A>T GRCh38
NC_000013.10:g.113765023A>T , CM000675.1:g.113765023A>T GRCh37
NC_000013.9:g.112813024A>T NCBI36
NG_009262.1:g.9919A>T , LRG_554:g.9919A>T

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.84A>T MANE Select NP_062562.1:p.Glu28Asp
ENST00000346342.8:c.84A>T MANE Select ENSP00000329546.4:p.Glu28Asp
NM_000131.4:c.150A>T , LRG_554t1:c.150A>T NP_000122.1:p.Glu50Asp
NM_001267554.1:c.65-3138A>T NP_001254483.1:n.65-3138A>T
NM_001267554.2:c.65-3138A>T NP_001254483.1:n.65-3138A>T
NM_019616.3:c.84A>T , LRG_554t2:c.84A>T NP_062562.1:p.Glu28Asp
NR_051961.1:n.124A>T
NR_051961.2:n.121A>T
ENST00000346342.7:c.84A>T ENSP00000329546.3:p.Glu28Asp
ENST00000375581.3:c.150A>T ENSP00000364731.3:p.Glu50Asp
ENST00000444337.1:c.70A>T ENSP00000387669.1:p.Ser24Cys
ENST00000473085.1:n.31A>T
ENST00000479674.1:n.370A>T
ENST00000541084.5:c.65-3138A>T ENSP00000442051.2:n.65-3138A>T
XM_006719963.2:c.84A>T XP_006720026.1:p.Glu28Asp
XM_006719963.3:c.129A>T XP_006720026.2:p.Glu43Asp
XM_011537474.1:c.84A>T XP_011535776.1:p.Glu28Asp
XM_011537474.2:c.129A>T XP_011535776.2:p.Glu43Asp
XM_011537475.1:c.65-3138A>T XP_011535777.1:n.65-3138A>T
XM_011537475.2:c.110-3138A>T XP_011535777.2:n.110-3138A>T
XM_011537477.1:c.70A>T XP_011535779.1:p.Ser24Cys