Canonical Allele Identifier: CA388786801
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118830A>T , CM000675.2:g.113118830A>T GRCh38
NC_000013.10:g.113773144A>T , CM000675.1:g.113773144A>T GRCh37
NC_000013.9:g.112821145A>T NCBI36
NG_009258.1:g.1032A>T , LRG_548:g.1032A>T
NG_009262.1:g.18040A>T , LRG_554:g.18040A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1157A>T MANE Select ENSP00000329546.4:p.His386Leu
ENST00000346342.7:c.1157A>T ENSP00000329546.3:p.His386Leu
ENST00000375581.3:c.1223A>T ENSP00000364731.3:p.His408Leu
ENST00000541084.5:c.971A>T ENSP00000442051.2:p.His324Leu
NM_000131.4:c.1223A>T , LRG_554t1:c.1223A>T NP_000122.1:p.His408Leu
NM_001267554.1:c.971A>T NP_001254483.1:p.His324Leu
NM_019616.3:c.1157A>T , LRG_554t2:c.1157A>T NP_062562.1:p.His386Leu
NR_051961.1:n.1244A>T
XM_006719963.2:c.1016A>T XP_006720026.1:p.His339Leu
XM_011537474.1:c.1265A>T XP_011535776.1:p.His422Leu
XM_011537475.1:c.1079A>T XP_011535777.1:p.His360Leu
XM_011537476.1:c.917A>T XP_011535778.1:p.His306Leu
XM_011537477.1:c.1226A>T XP_011535779.1:p.His409Leu
XM_006719963.3:c.1061A>T XP_006720026.2:p.His354Leu
XM_011537474.2:c.1310A>T XP_011535776.2:p.His437Leu
XM_011537475.2:c.1124A>T XP_011535777.2:p.His375Leu
XM_011537476.2:c.917A>T XP_011535778.1:p.His306Leu
NM_019616.4:c.1157A>T MANE Select NP_062562.1:p.His386Leu
NR_051961.2:n.1241A>T
NM_001267554.2:c.971A>T NP_001254483.1:p.His324Leu