Canonical Allele Identifier: CA256452187
Community Standard Title: NM_019616.4(F7):c.64+1005G>A
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113106910G>A , CM000675.2:g.113106910G>A GRCh38
NC_000013.10:g.113761224G>A , CM000675.1:g.113761224G>A GRCh37
NC_000013.9:g.112809225G>A NCBI36
NG_009262.1:g.6120G>A , LRG_554:g.6120G>A

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.64+1005G>A MANE Select NP_062562.1:n.64+1005G>A
ENST00000346342.8:c.64+1005G>A MANE Select ENSP00000329546.4:n.64+1005G>A
NM_000131.4:c.130G>A , LRG_554t1:c.130G>A NP_000122.1:p.Val44Ile
NM_001267554.1:c.64+1005G>A NP_001254483.1:n.64+1005G>A
NM_001267554.2:c.64+1005G>A NP_001254483.1:n.64+1005G>A
NM_019616.3:c.64+1005G>A , LRG_554t2:c.64+1005G>A NP_062562.1:n.64+1005G>A
NR_051961.1:n.118+1005G>A
NR_051961.2:n.115+1005G>A
ENST00000346342.7:c.64+1005G>A ENSP00000329546.3:n.64+1005G>A
ENST00000375581.3:c.130G>A ENSP00000364731.3:p.Val44Ile
ENST00000444337.1:c.64+1005G>A ENSP00000387669.1:n.64+1005G>A
ENST00000541084.5:c.64+1005G>A ENSP00000442051.2:n.64+1005G>A
XM_006719963.2:c.64+1005G>A XP_006720026.1:n.64+1005G>A
XM_006719963.3:c.109+1005G>A XP_006720026.2:n.109+1005G>A
XM_011537474.1:c.64+1005G>A XP_011535776.1:n.64+1005G>A
XM_011537474.2:c.109+1005G>A XP_011535776.2:n.109+1005G>A
XM_011537475.1:c.64+1005G>A XP_011535777.1:n.64+1005G>A
XM_011537475.2:c.109+1005G>A XP_011535777.2:n.109+1005G>A
XM_011537477.1:c.64+1005G>A XP_011535779.1:n.64+1005G>A