Canonical Allele Identifier: CA388786392
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118733A>C , CM000675.2:g.113118733A>C GRCh38
NC_000013.10:g.113773047A>C , CM000675.1:g.113773047A>C GRCh37
NC_000013.9:g.112821048A>C NCBI36
NG_009258.1:g.935A>C , LRG_548:g.935A>C
NG_009262.1:g.17943A>C , LRG_554:g.17943A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1060A>C MANE Select ENSP00000329546.4:p.Lys354Gln
ENST00000346342.7:c.1060A>C ENSP00000329546.3:p.Lys354Gln
ENST00000375581.3:c.1126A>C ENSP00000364731.3:p.Lys376Gln
ENST00000541084.5:c.874A>C ENSP00000442051.2:p.Lys292Gln
NM_000131.4:c.1126A>C , LRG_554t1:c.1126A>C NP_000122.1:p.Lys376Gln
NM_001267554.1:c.874A>C NP_001254483.1:p.Lys292Gln
NM_019616.3:c.1060A>C , LRG_554t2:c.1060A>C NP_062562.1:p.Lys354Gln
NR_051961.1:n.1147A>C
XM_006719963.2:c.919A>C XP_006720026.1:p.Lys307Gln
XM_011537474.1:c.1168A>C XP_011535776.1:p.Lys390Gln
XM_011537475.1:c.982A>C XP_011535777.1:p.Lys328Gln
XM_011537476.1:c.820A>C XP_011535778.1:p.Lys274Gln
XM_011537477.1:c.1129A>C XP_011535779.1:p.Lys377Gln
XM_006719963.3:c.964A>C XP_006720026.2:p.Lys322Gln
XM_011537474.2:c.1213A>C XP_011535776.2:p.Lys405Gln
XM_011537475.2:c.1027A>C XP_011535777.2:p.Lys343Gln
XM_011537476.2:c.820A>C XP_011535778.1:p.Lys274Gln
NM_019616.4:c.1060A>C MANE Select NP_062562.1:p.Lys354Gln
NR_051961.2:n.1144A>C
NM_001267554.2:c.874A>C NP_001254483.1:p.Lys292Gln