Canonical Allele Identifier: CA7060012
Community Standard Title: NM_019616.4(F7):c.568C>T (p.Arg190Ter)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113116828C>T , CM000675.2:g.113116828C>T GRCh38
NC_000013.10:g.113771142C>T , CM000675.1:g.113771142C>T GRCh37
NC_000013.9:g.112819143C>T NCBI36
NG_009262.1:g.16038C>T , LRG_554:g.16038C>T

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.568C>T MANE Select NP_062562.1:p.Arg190Ter
ENST00000346342.8:c.568C>T MANE Select ENSP00000329546.4:p.Arg190Ter
NM_000131.4:c.634C>T , LRG_554t1:c.634C>T NP_000122.1:p.Arg212Ter
NM_001267554.1:c.382C>T NP_001254483.1:p.Arg128Ter
NM_001267554.2:c.382C>T NP_001254483.1:p.Arg128Ter
NM_019616.3:c.568C>T , LRG_554t2:c.568C>T NP_062562.1:p.Arg190Ter
NR_051961.1:n.655C>T
NR_051961.2:n.652C>T
ENST00000346342.7:c.568C>T ENSP00000329546.3:p.Arg190Ter
ENST00000375581.3:c.634C>T ENSP00000364731.3:p.Arg212Ter
ENST00000479674.1:n.760C>T
ENST00000541084.5:c.382C>T ENSP00000442051.2:p.Arg128Ter
XM_006719963.2:c.427C>T XP_006720026.1:p.Arg143Ter
XM_006719963.3:c.472C>T XP_006720026.2:p.Arg158Ter
XM_011537474.1:c.676C>T XP_011535776.1:p.Arg226Ter
XM_011537474.2:c.721C>T XP_011535776.2:p.Arg241Ter
XM_011537475.1:c.490C>T XP_011535777.1:p.Arg164Ter
XM_011537475.2:c.535C>T XP_011535777.2:p.Arg179Ter
XM_011537476.1:c.328C>T XP_011535778.1:p.Arg110Ter
XM_011537476.2:c.328C>T XP_011535778.1:p.Arg110Ter
XM_011537477.1:c.637C>T XP_011535779.1:p.Arg213Ter