Canonical Allele Identifier: CA358944239

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286479G>A , CM000666.2:g.186286479G>A GRCh38
NC_000004.11:g.187207633G>A , CM000666.1:g.187207633G>A GRCh37
NC_000004.10:g.187444627G>A NCBI36
NG_008051.1:g.25516G>A , LRG_583:g.25516G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1545G>A (F11) MANE Select ENSP00000384957.2:p.Trp515Ter
ENST00000264691.4:c.176+666G>A (F11)
ENST00000264692.8:c.1383G>A (F11) ENSP00000264692.5:p.Trp461Ter
ENST00000403665.6:c.1545G>A (F11) ENSP00000384957.2:p.Trp515Ter
NM_000128.3:c.1545G>A , LRG_583t1:c.1545G>A (F11) NP_000119.1:p.Trp515Ter
NR_033900.1:n.1067-213C>T (F11-AS1)
XM_005262821.2:c.1548G>A (F11) XP_005262878.1:p.Trp516Ter
XM_005262822.2:c.1483+666G>A (F11) XP_005262879.1:n.1483+666G>A
XM_005262823.2:c.1278G>A (F11) XP_005262880.1:p.Trp426Ter
XM_005262824.1:c.1484-67G>A (F11) XP_005262881.1:n.1484-67G>A
XM_006714137.1:c.1500G>A (F11) XP_006714200.1:p.Trp500Ter
XR_938706.1:n.1953G>A (F11)
XR_938707.1:n.1888+666G>A (F11)
XM_005262821.4:c.1548G>A (F11) XP_005262878.1:p.Trp516Ter
XM_005262822.4:c.1483+666G>A (F11) XP_005262879.1:n.1483+666G>A
XM_005262823.4:c.1278G>A (F11) XP_005262880.1:p.Trp426Ter
XM_006714137.3:c.1500G>A (F11) XP_006714200.1:p.Trp500Ter
XR_001741172.2:n.2019G>A (F11)
NM_000128.4:c.1545G>A (F11) MANE Select NP_000119.1:p.Trp515Ter