Canonical Allele Identifier: CA388783025
Community Standard Title: NM_019616.4(F7):c.394G>T (p.Glu132Ter)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113115689G>T , CM000675.2:g.113115689G>T GRCh38
NC_000013.10:g.113770003G>T , CM000675.1:g.113770003G>T GRCh37
NC_000013.9:g.112818004G>T NCBI36
NG_009262.1:g.14899G>T , LRG_554:g.14899G>T

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.394G>T MANE Select NP_062562.1:p.Glu132Ter
ENST00000346342.8:c.394G>T MANE Select ENSP00000329546.4:p.Glu132Ter
NM_000131.4:c.460G>T , LRG_554t1:c.460G>T NP_000122.1:p.Glu154Ter
NM_001267554.1:c.208G>T NP_001254483.1:p.Glu70Ter
NM_001267554.2:c.208G>T NP_001254483.1:p.Glu70Ter
NM_019616.3:c.394G>T , LRG_554t2:c.394G>T NP_062562.1:p.Glu132Ter
NR_051961.1:n.481G>T
NR_051961.2:n.478G>T
ENST00000346342.7:c.394G>T ENSP00000329546.3:p.Glu132Ter
ENST00000375581.3:c.460G>T ENSP00000364731.3:p.Glu154Ter
ENST00000444337.1:c.*202G>T ENSP00000387669.1:n.*202G>T
ENST00000479674.1:n.698-1077G>T
ENST00000541084.5:c.208G>T ENSP00000442051.2:p.Glu70Ter
XM_006719963.2:c.365-1077G>T XP_006720026.1:n.365-1077G>T
XM_006719963.3:c.410-1077G>T XP_006720026.2:n.410-1077G>T
XM_011537474.1:c.502G>T XP_011535776.1:p.Glu168Ter
XM_011537474.2:c.547G>T XP_011535776.2:p.Glu183Ter
XM_011537475.1:c.316G>T XP_011535777.1:p.Glu106Ter
XM_011537475.2:c.361G>T XP_011535777.2:p.Glu121Ter
XM_011537476.1:c.154G>T XP_011535778.1:p.Glu52Ter
XM_011537476.2:c.154G>T XP_011535778.1:p.Glu52Ter
XM_011537477.1:c.463G>T XP_011535779.1:p.Glu155Ter