Canonical Allele Identifier: CA388786361
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118717C>A , CM000675.2:g.113118717C>A GRCh38
NC_000013.10:g.113773031C>A , CM000675.1:g.113773031C>A GRCh37
NC_000013.9:g.112821032C>A NCBI36
NG_009258.1:g.919C>A , LRG_548:g.919C>A
NG_009262.1:g.17927C>A , LRG_554:g.17927C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1044C>A MANE Select ENSP00000329546.4:p.Cys348Ter
ENST00000346342.7:c.1044C>A ENSP00000329546.3:p.Cys348Ter
ENST00000375581.3:c.1110C>A ENSP00000364731.3:p.Cys370Ter
ENST00000541084.5:c.858C>A ENSP00000442051.2:p.Cys286Ter
NM_000131.4:c.1110C>A , LRG_554t1:c.1110C>A NP_000122.1:p.Cys370Ter
NM_001267554.1:c.858C>A NP_001254483.1:p.Cys286Ter
NM_019616.3:c.1044C>A , LRG_554t2:c.1044C>A NP_062562.1:p.Cys348Ter
NR_051961.1:n.1131C>A
XM_006719963.2:c.903C>A XP_006720026.1:p.Cys301Ter
XM_011537474.1:c.1152C>A XP_011535776.1:p.Cys384Ter
XM_011537475.1:c.966C>A XP_011535777.1:p.Cys322Ter
XM_011537476.1:c.804C>A XP_011535778.1:p.Cys268Ter
XM_011537477.1:c.1113C>A XP_011535779.1:p.Cys371Ter
XM_006719963.3:c.948C>A XP_006720026.2:p.Cys316Ter
XM_011537474.2:c.1197C>A XP_011535776.2:p.Cys399Ter
XM_011537475.2:c.1011C>A XP_011535777.2:p.Cys337Ter
XM_011537476.2:c.804C>A XP_011535778.1:p.Cys268Ter
NM_019616.4:c.1044C>A MANE Select NP_062562.1:p.Cys348Ter
NR_051961.2:n.1128C>A
NM_001267554.2:c.858C>A NP_001254483.1:p.Cys286Ter