Canonical Allele Identifier: CA1519938892

Linked Data

dbSNP Id: rs1741226054

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286605T>C , CM000666.2:g.186286605T>C GRCh38
NC_000004.11:g.187207759T>C , CM000666.1:g.187207759T>C GRCh37
NC_000004.10:g.187444753T>C NCBI36
NG_008051.1:g.25642T>C , LRG_583:g.25642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1576+95T>C (F11) MANE Select ENSP00000384957.2:n.1576+95T>C
ENST00000264691.4:c.176+792T>C (F11)
ENST00000264692.8:c.1414+95T>C (F11) ENSP00000264692.5:n.1414+95T>C
ENST00000403665.6:c.1576+95T>C (F11) ENSP00000384957.2:n.1576+95T>C
NM_000128.3:c.1576+95T>C , LRG_583t1:c.1576+95T>C (F11) NP_000119.1:n.1576+95T>C
NR_033900.1:n.1067-339A>G (F11-AS1)
XM_005262821.2:c.1579+95T>C (F11) XP_005262878.1:n.1579+95T>C
XM_005262822.2:c.1483+792T>C (F11) XP_005262879.1:n.1483+792T>C
XM_005262823.2:c.1309+95T>C (F11) XP_005262880.1:n.1309+95T>C
XM_005262824.1:c.1543T>C (F11) XP_005262881.1:p.Ser515Pro
XM_006714137.1:c.1531+95T>C (F11) XP_006714200.1:n.1531+95T>C
XR_938706.1:n.1984+95T>C (F11)
XR_938707.1:n.1888+792T>C (F11)
XM_005262821.4:c.1579+95T>C (F11) XP_005262878.1:n.1579+95T>C
XM_005262822.4:c.1483+792T>C (F11) XP_005262879.1:n.1483+792T>C
XM_005262823.4:c.1309+95T>C (F11) XP_005262880.1:n.1309+95T>C
XM_006714137.3:c.1531+95T>C (F11) XP_006714200.1:n.1531+95T>C
NM_000128.4:c.1576+95T>C (F11) MANE Select NP_000119.1:n.1576+95T>C