Canonical Allele Identifier: CA388786323
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118700C>A , CM000675.2:g.113118700C>A GRCh38
NC_000013.10:g.113773014C>A , CM000675.1:g.113773014C>A GRCh37
NC_000013.9:g.112821015C>A NCBI36
NG_009258.1:g.902C>A , LRG_548:g.902C>A
NG_009262.1:g.17910C>A , LRG_554:g.17910C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1027C>A MANE Select ENSP00000329546.4:p.Leu343Met
ENST00000346342.7:c.1027C>A ENSP00000329546.3:p.Leu343Met
ENST00000375581.3:c.1093C>A ENSP00000364731.3:p.Leu365Met
ENST00000541084.5:c.841C>A ENSP00000442051.2:p.Leu281Met
NM_000131.4:c.1093C>A , LRG_554t1:c.1093C>A NP_000122.1:p.Leu365Met
NM_001267554.1:c.841C>A NP_001254483.1:p.Leu281Met
NM_019616.3:c.1027C>A , LRG_554t2:c.1027C>A NP_062562.1:p.Leu343Met
NR_051961.1:n.1114C>A
XM_006719963.2:c.886C>A XP_006720026.1:p.Leu296Met
XM_011537474.1:c.1135C>A XP_011535776.1:p.Leu379Met
XM_011537475.1:c.949C>A XP_011535777.1:p.Leu317Met
XM_011537476.1:c.787C>A XP_011535778.1:p.Leu263Met
XM_011537477.1:c.1096C>A XP_011535779.1:p.Leu366Met
XM_006719963.3:c.931C>A XP_006720026.2:p.Leu311Met
XM_011537474.2:c.1180C>A XP_011535776.2:p.Leu394Met
XM_011537475.2:c.994C>A XP_011535777.2:p.Leu332Met
XM_011537476.2:c.787C>A XP_011535778.1:p.Leu263Met
NM_019616.4:c.1027C>A MANE Select NP_062562.1:p.Leu343Met
NR_051961.2:n.1111C>A
NM_001267554.2:c.841C>A NP_001254483.1:p.Leu281Met