Canonical Allele Identifier: CA388786809
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118832G>A , CM000675.2:g.113118832G>A GRCh38
NC_000013.10:g.113773146G>A , CM000675.1:g.113773146G>A GRCh37
NC_000013.9:g.112821147G>A NCBI36
NG_009258.1:g.1034G>A , LRG_548:g.1034G>A
NG_009262.1:g.18042G>A , LRG_554:g.18042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1159G>A MANE Select ENSP00000329546.4:p.Ala387Thr
ENST00000346342.7:c.1159G>A ENSP00000329546.3:p.Ala387Thr
ENST00000375581.3:c.1225G>A ENSP00000364731.3:p.Ala409Thr
ENST00000541084.5:c.973G>A ENSP00000442051.2:p.Ala325Thr
NM_000131.4:c.1225G>A , LRG_554t1:c.1225G>A NP_000122.1:p.Ala409Thr
NM_001267554.1:c.973G>A NP_001254483.1:p.Ala325Thr
NM_019616.3:c.1159G>A , LRG_554t2:c.1159G>A NP_062562.1:p.Ala387Thr
NR_051961.1:n.1246G>A
XM_006719963.2:c.1018G>A XP_006720026.1:p.Ala340Thr
XM_011537474.1:c.1267G>A XP_011535776.1:p.Ala423Thr
XM_011537475.1:c.1081G>A XP_011535777.1:p.Ala361Thr
XM_011537476.1:c.919G>A XP_011535778.1:p.Ala307Thr
XM_011537477.1:c.1228G>A XP_011535779.1:p.Ala410Thr
XM_006719963.3:c.1063G>A XP_006720026.2:p.Ala355Thr
XM_011537474.2:c.1312G>A XP_011535776.2:p.Ala438Thr
XM_011537475.2:c.1126G>A XP_011535777.2:p.Ala376Thr
XM_011537476.2:c.919G>A XP_011535778.1:p.Ala307Thr
NM_019616.4:c.1159G>A MANE Select NP_062562.1:p.Ala387Thr
NR_051961.2:n.1243G>A
NM_001267554.2:c.973G>A NP_001254483.1:p.Ala325Thr