Canonical Allele Identifier: CA388780714
Community Standard Title: NM_019616.4(F7):c.84A>C (p.Glu28Asp)
Gene: F7 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.84A>C MANE Select NP_062562.1:p.Glu28Asp
ENST00000346342.8:c.84A>C MANE Select ENSP00000329546.4:p.Glu28Asp
NM_000131.4:c.150A>C , LRG_554t1:c.150A>C NP_000122.1:p.Glu50Asp
NM_001267554.1:c.65-3138A>C NP_001254483.1:n.65-3138A>C
NM_001267554.2:c.65-3138A>C NP_001254483.1:n.65-3138A>C
NM_019616.3:c.84A>C , LRG_554t2:c.84A>C NP_062562.1:p.Glu28Asp
NR_051961.1:n.124A>C
NR_051961.2:n.121A>C
ENST00000346342.7:c.84A>C ENSP00000329546.3:p.Glu28Asp
ENST00000375581.3:c.150A>C ENSP00000364731.3:p.Glu50Asp
ENST00000444337.1:c.70A>C ENSP00000387669.1:p.Ser24Arg
ENST00000473085.1:n.31A>C
ENST00000479674.1:n.370A>C
ENST00000541084.5:c.65-3138A>C ENSP00000442051.2:n.65-3138A>C
XM_006719963.2:c.84A>C XP_006720026.1:p.Glu28Asp
XM_006719963.3:c.129A>C XP_006720026.2:p.Glu43Asp
XM_011537474.1:c.84A>C XP_011535776.1:p.Glu28Asp
XM_011537474.2:c.129A>C XP_011535776.2:p.Glu43Asp
XM_011537475.1:c.65-3138A>C XP_011535777.1:n.65-3138A>C
XM_011537475.2:c.110-3138A>C XP_011535777.2:n.110-3138A>C
XM_011537477.1:c.70A>C XP_011535779.1:p.Ser24Arg