Canonical Allele Identifier: CA388787241
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113119006T>G , CM000675.2:g.113119006T>G GRCh38
NC_000013.10:g.113773320T>G , CM000675.1:g.113773320T>G GRCh37
NC_000013.9:g.112821321T>G NCBI36
NG_009258.1:g.1208T>G , LRG_548:g.1208T>G
NG_009262.1:g.18216T>G , LRG_554:g.18216T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1333T>G MANE Select ENSP00000329546.4:p.Ter445Glu
ENST00000346342.7:c.1333T>G ENSP00000329546.3:p.Ter445Glu
ENST00000375581.3:c.1399T>G ENSP00000364731.3:p.Ter467Glu
ENST00000541084.5:c.1147T>G ENSP00000442051.2:p.Ter383Glu
NM_000131.4:c.1399T>G , LRG_554t1:c.1399T>G NP_000122.1:p.Ter467Glu
NM_001267554.1:c.1147T>G NP_001254483.1:p.Ter383Glu
NM_019616.3:c.1333T>G , LRG_554t2:c.1333T>G NP_062562.1:p.Ter445Glu
NR_051961.1:n.1420T>G
XM_006719963.2:c.1192T>G XP_006720026.1:p.Ter398Glu
XM_011537474.1:c.1441T>G XP_011535776.1:p.Ter481Glu
XM_011537475.1:c.1255T>G XP_011535777.1:p.Ter419Glu
XM_011537476.1:c.1093T>G XP_011535778.1:p.Ter365Glu
XM_011537477.1:c.1402T>G XP_011535779.1:p.Ter468Glu
XM_006719963.3:c.1237T>G XP_006720026.2:p.Ter413Glu
XM_011537474.2:c.1486T>G XP_011535776.2:p.Ter496Glu
XM_011537475.2:c.1300T>G XP_011535777.2:p.Ter434Glu
XM_011537476.2:c.1093T>G XP_011535778.1:p.Ter365Glu
NM_019616.4:c.1333T>G MANE Select NP_062562.1:p.Ter445Glu
NR_051961.2:n.1417T>G
NM_001267554.2:c.1147T>G NP_001254483.1:p.Ter383Glu