Canonical Allele Identifier: CA388780719
Community Standard Title: NM_019616.4(F7):c.86C>A (p.Ala29Asp)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113110711C>A , CM000675.2:g.113110711C>A GRCh38
NC_000013.10:g.113765025C>A , CM000675.1:g.113765025C>A GRCh37
NC_000013.9:g.112813026C>A NCBI36
NG_009262.1:g.9921C>A , LRG_554:g.9921C>A

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.86C>A MANE Select NP_062562.1:p.Ala29Asp
ENST00000346342.8:c.86C>A MANE Select ENSP00000329546.4:p.Ala29Asp
NM_000131.4:c.152C>A , LRG_554t1:c.152C>A NP_000122.1:p.Ala51Asp
NM_001267554.1:c.65-3136C>A NP_001254483.1:n.65-3136C>A
NM_001267554.2:c.65-3136C>A NP_001254483.1:n.65-3136C>A
NM_019616.3:c.86C>A , LRG_554t2:c.86C>A NP_062562.1:p.Ala29Asp
NR_051961.1:n.126C>A
NR_051961.2:n.123C>A
ENST00000346342.7:c.86C>A ENSP00000329546.3:p.Ala29Asp
ENST00000375581.3:c.152C>A ENSP00000364731.3:p.Ala51Asp
ENST00000444337.1:c.72C>A ENSP00000387669.1:p.Ser24Arg
ENST00000473085.1:n.33C>A
ENST00000479674.1:n.372C>A
ENST00000541084.5:c.65-3136C>A ENSP00000442051.2:n.65-3136C>A
XM_006719963.2:c.86C>A XP_006720026.1:p.Ala29Asp
XM_006719963.3:c.131C>A XP_006720026.2:p.Ala44Asp
XM_011537474.1:c.86C>A XP_011535776.1:p.Ala29Asp
XM_011537474.2:c.131C>A XP_011535776.2:p.Ala44Asp
XM_011537475.1:c.65-3136C>A XP_011535777.1:n.65-3136C>A
XM_011537475.2:c.110-3136C>A XP_011535777.2:n.110-3136C>A
XM_011537477.1:c.72C>A XP_011535779.1:p.Ser24Arg