Canonical Allele Identifier: CA388787105
Community Standard Title: NM_019616.4(F7):c.1263C>G (p.Tyr421Ter)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118936C>G , CM000675.2:g.113118936C>G GRCh38
NC_000013.10:g.113773250C>G , CM000675.1:g.113773250C>G GRCh37
NC_000013.9:g.112821251C>G NCBI36
NG_009258.1:g.1138C>G , LRG_548:g.1138C>G
NG_009262.1:g.18146C>G , LRG_554:g.18146C>G

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.1263C>G MANE Select NP_062562.1:p.Tyr421Ter
ENST00000346342.8:c.1263C>G MANE Select ENSP00000329546.4:p.Tyr421Ter
NM_000131.4:c.1329C>G , LRG_554t1:c.1329C>G NP_000122.1:p.Tyr443Ter
NM_001267554.1:c.1077C>G NP_001254483.1:p.Tyr359Ter
NM_001267554.2:c.1077C>G NP_001254483.1:p.Tyr359Ter
NM_019616.3:c.1263C>G , LRG_554t2:c.1263C>G NP_062562.1:p.Tyr421Ter
NR_051961.1:n.1350C>G
NR_051961.2:n.1347C>G
ENST00000346342.7:c.1263C>G ENSP00000329546.3:p.Tyr421Ter
ENST00000375581.3:c.1329C>G ENSP00000364731.3:p.Tyr443Ter
ENST00000541084.5:c.1077C>G ENSP00000442051.2:p.Tyr359Ter
XM_006719963.2:c.1122C>G XP_006720026.1:p.Tyr374Ter
XM_006719963.3:c.1167C>G XP_006720026.2:p.Tyr389Ter
XM_011537474.1:c.1371C>G XP_011535776.1:p.Tyr457Ter
XM_011537474.2:c.1416C>G XP_011535776.2:p.Tyr472Ter
XM_011537475.1:c.1185C>G XP_011535777.1:p.Tyr395Ter
XM_011537475.2:c.1230C>G XP_011535777.2:p.Tyr410Ter
XM_011537476.1:c.1023C>G XP_011535778.1:p.Tyr341Ter
XM_011537476.2:c.1023C>G XP_011535778.1:p.Tyr341Ter
XM_011537477.1:c.1332C>G XP_011535779.1:p.Tyr444Ter