Canonical Allele Identifier: CA388786683
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118805T>A , CM000675.2:g.113118805T>A GRCh38
NC_000013.10:g.113773119T>A , CM000675.1:g.113773119T>A GRCh37
NC_000013.9:g.112821120T>A NCBI36
NG_009258.1:g.1007T>A , LRG_548:g.1007T>A
NG_009262.1:g.18015T>A , LRG_554:g.18015T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1132T>A MANE Select ENSP00000329546.4:p.Cys378Ser
ENST00000346342.7:c.1132T>A ENSP00000329546.3:p.Cys378Ser
ENST00000375581.3:c.1198T>A ENSP00000364731.3:p.Cys400Ser
ENST00000541084.5:c.946T>A ENSP00000442051.2:p.Cys316Ser
NM_000131.4:c.1198T>A , LRG_554t1:c.1198T>A NP_000122.1:p.Cys400Ser
NM_001267554.1:c.946T>A NP_001254483.1:p.Cys316Ser
NM_019616.3:c.1132T>A , LRG_554t2:c.1132T>A NP_062562.1:p.Cys378Ser
NR_051961.1:n.1219T>A
XM_006719963.2:c.991T>A XP_006720026.1:p.Cys331Ser
XM_011537474.1:c.1240T>A XP_011535776.1:p.Cys414Ser
XM_011537475.1:c.1054T>A XP_011535777.1:p.Cys352Ser
XM_011537476.1:c.892T>A XP_011535778.1:p.Cys298Ser
XM_011537477.1:c.1201T>A XP_011535779.1:p.Cys401Ser
XM_006719963.3:c.1036T>A XP_006720026.2:p.Cys346Ser
XM_011537474.2:c.1285T>A XP_011535776.2:p.Cys429Ser
XM_011537475.2:c.1099T>A XP_011535777.2:p.Cys367Ser
XM_011537476.2:c.892T>A XP_011535778.1:p.Cys298Ser
NM_019616.4:c.1132T>A MANE Select NP_062562.1:p.Cys378Ser
NR_051961.2:n.1216T>A
NM_001267554.2:c.946T>A NP_001254483.1:p.Cys316Ser