Canonical Allele Identifier: CA358944194

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286473T>A , CM000666.2:g.186286473T>A GRCh38
NC_000004.11:g.187207627T>A , CM000666.1:g.187207627T>A GRCh37
NC_000004.10:g.187444621T>A NCBI36
NG_008051.1:g.25510T>A , LRG_583:g.25510T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1539T>A (F11) MANE Select ENSP00000384957.2:p.Asp513Glu
ENST00000264691.4:c.176+660T>A (F11)
ENST00000264692.8:c.1377T>A (F11) ENSP00000264692.5:p.Asp459Glu
ENST00000403665.6:c.1539T>A (F11) ENSP00000384957.2:p.Asp513Glu
NM_000128.3:c.1539T>A , LRG_583t1:c.1539T>A (F11) NP_000119.1:p.Asp513Glu
NR_033900.1:n.1067-207A>T (F11-AS1)
XM_005262821.2:c.1542T>A (F11) XP_005262878.1:p.Asp514Glu
XM_005262822.2:c.1483+660T>A (F11) XP_005262879.1:n.1483+660T>A
XM_005262823.2:c.1272T>A (F11) XP_005262880.1:p.Asp424Glu
XM_005262824.1:c.1484-73T>A (F11) XP_005262881.1:n.1484-73T>A
XM_006714137.1:c.1494T>A (F11) XP_006714200.1:p.Asp498Glu
XR_938706.1:n.1947T>A (F11)
XR_938707.1:n.1888+660T>A (F11)
XM_005262821.4:c.1542T>A (F11) XP_005262878.1:p.Asp514Glu
XM_005262822.4:c.1483+660T>A (F11) XP_005262879.1:n.1483+660T>A
XM_005262823.4:c.1272T>A (F11) XP_005262880.1:p.Asp424Glu
XM_006714137.3:c.1494T>A (F11) XP_006714200.1:p.Asp498Glu
XR_001741172.2:n.2013T>A (F11)
NM_000128.4:c.1539T>A (F11) MANE Select NP_000119.1:p.Asp513Glu