Canonical Allele Identifier: CA358945511

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287713A>G , CM000666.2:g.186287713A>G GRCh38
NC_000004.11:g.187208867A>G , CM000666.1:g.187208867A>G GRCh37
NC_000004.10:g.187445861A>G NCBI36
NG_008051.1:g.26750A>G , LRG_583:g.26750A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1606A>G (F11) MANE Select ENSP00000384957.2:p.Lys536Glu
ENST00000264691.4:c.206A>G (F11)
ENST00000264692.8:c.1444A>G (F11) ENSP00000264692.5:p.Lys482Glu
ENST00000403665.6:c.1606A>G (F11) ENSP00000384957.2:p.Lys536Glu
ENST00000503841.1:n.125A>G (F11)
NM_000128.3:c.1606A>G , LRG_583t1:c.1606A>G (F11) NP_000119.1:p.Lys536Glu
NR_033900.1:n.1066+715T>C (F11-AS1)
XM_005262821.2:c.1609A>G (F11) XP_005262878.1:p.Lys537Glu
XM_005262822.2:c.1513A>G (F11) XP_005262879.1:p.Lys505Glu
XM_005262823.2:c.1339A>G (F11) XP_005262880.1:p.Lys447Glu
XM_006714137.1:c.1561A>G (F11) XP_006714200.1:p.Lys521Glu
XR_938707.1:n.1918A>G (F11)
XM_005262821.4:c.1609A>G (F11) XP_005262878.1:p.Lys537Glu
XM_005262822.4:c.1513A>G (F11) XP_005262879.1:p.Lys505Glu
XM_005262823.4:c.1339A>G (F11) XP_005262880.1:p.Lys447Glu
XM_006714137.3:c.1561A>G (F11) XP_006714200.1:p.Lys521Glu
NM_000128.4:c.1606A>G (F11) MANE Select NP_000119.1:p.Lys536Glu