Canonical Allele Identifier: CA388787248
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113119008G>T , CM000675.2:g.113119008G>T GRCh38
NC_000013.10:g.113773322G>T , CM000675.1:g.113773322G>T GRCh37
NC_000013.9:g.112821323G>T NCBI36
NG_009258.1:g.1210G>T , LRG_548:g.1210G>T
NG_009262.1:g.18218G>T , LRG_554:g.18218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1335G>T MANE Select ENSP00000329546.4:p.Ter445Tyr
ENST00000346342.7:c.1335G>T ENSP00000329546.3:p.Ter445Tyr
ENST00000375581.3:c.1401G>T ENSP00000364731.3:p.Ter467Tyr
ENST00000541084.5:c.1149G>T ENSP00000442051.2:p.Ter383Tyr
NM_000131.4:c.1401G>T , LRG_554t1:c.1401G>T NP_000122.1:p.Ter467Tyr
NM_001267554.1:c.1149G>T NP_001254483.1:p.Ter383Tyr
NM_019616.3:c.1335G>T , LRG_554t2:c.1335G>T NP_062562.1:p.Ter445Tyr
NR_051961.1:n.1422G>T
XM_006719963.2:c.1194G>T XP_006720026.1:p.Ter398Tyr
XM_011537474.1:c.1443G>T XP_011535776.1:p.Ter481Tyr
XM_011537475.1:c.1257G>T XP_011535777.1:p.Ter419Tyr
XM_011537476.1:c.1095G>T XP_011535778.1:p.Ter365Tyr
XM_011537477.1:c.1404G>T XP_011535779.1:p.Ter468Tyr
XM_006719963.3:c.1239G>T XP_006720026.2:p.Ter413Tyr
XM_011537474.2:c.1488G>T XP_011535776.2:p.Ter496Tyr
XM_011537475.2:c.1302G>T XP_011535777.2:p.Ter434Tyr
XM_011537476.2:c.1095G>T XP_011535778.1:p.Ter365Tyr
NM_019616.4:c.1335G>T MANE Select NP_062562.1:p.Ter445Tyr
NR_051961.2:n.1419G>T
NM_001267554.2:c.1149G>T NP_001254483.1:p.Ter383Tyr