Canonical Allele Identifier: CA2018007887
Community Standard Title: NM_019616.4(F7):c.1172G= (p.Arg391=)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118845G= , CM000675.2:g.113118845G= GRCh38
NC_000013.10:g.113773159G= , CM000675.1:g.113773159G= GRCh37
NC_000013.9:g.112821160G= NCBI36
NG_009258.1:g.1047G= , LRG_548:g.1047G=
NG_009262.1:g.18055G= , LRG_554:g.18055G=

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.1172G= MANE Select NP_062562.1:p.Arg391=
ENST00000346342.8:c.1172G= MANE Select ENSP00000329546.4:p.Arg391=
NM_000131.4:c.1238G= , LRG_554t1:c.1238G= NP_000122.1:p.Arg413=
NM_001267554.1:c.986G= NP_001254483.1:p.Arg329=
NM_001267554.2:c.986G= NP_001254483.1:p.Arg329=
NM_019616.3:c.1172G= , LRG_554t2:c.1172G= NP_062562.1:p.Arg391=
NR_051961.1:n.1259G=
NR_051961.2:n.1256G=
ENST00000346342.7:c.1172G= ENSP00000329546.3:p.Arg391=
ENST00000375581.3:c.1238G= ENSP00000364731.3:p.Arg413=
ENST00000541084.5:c.986G= ENSP00000442051.2:p.Arg329=
XM_006719963.2:c.1031G= XP_006720026.1:p.Arg344=
XM_006719963.3:c.1076G= XP_006720026.2:p.Arg359=
XM_011537474.1:c.1280G= XP_011535776.1:p.Arg427=
XM_011537474.2:c.1325G= XP_011535776.2:p.Arg442=
XM_011537475.1:c.1094G= XP_011535777.1:p.Arg365=
XM_011537475.2:c.1139G= XP_011535777.2:p.Arg380=
XM_011537476.1:c.932G= XP_011535778.1:p.Arg311=
XM_011537476.2:c.932G= XP_011535778.1:p.Arg311=
XM_011537477.1:c.1241G= XP_011535779.1:p.Arg414=