Canonical Allele Identifier: CA358944303

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286491G>T , CM000666.2:g.186286491G>T GRCh38
NC_000004.11:g.187207645G>T , CM000666.1:g.187207645G>T GRCh37
NC_000004.10:g.187444639G>T NCBI36
NG_008051.1:g.25528G>T , LRG_583:g.25528G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1557G>T (F11) MANE Select ENSP00000384957.2:p.Trp519Cys
ENST00000264691.4:c.176+678G>T (F11)
ENST00000264692.8:c.1395G>T (F11) ENSP00000264692.5:p.Trp465Cys
ENST00000403665.6:c.1557G>T (F11) ENSP00000384957.2:p.Trp519Cys
NM_000128.3:c.1557G>T , LRG_583t1:c.1557G>T (F11) NP_000119.1:p.Trp519Cys
NR_033900.1:n.1067-225C>A (F11-AS1)
XM_005262821.2:c.1560G>T (F11) XP_005262878.1:p.Trp520Cys
XM_005262822.2:c.1483+678G>T (F11) XP_005262879.1:n.1483+678G>T
XM_005262823.2:c.1290G>T (F11) XP_005262880.1:p.Trp430Cys
XM_005262824.1:c.1484-55G>T (F11) XP_005262881.1:n.1484-55G>T
XM_006714137.1:c.1512G>T (F11) XP_006714200.1:p.Trp504Cys
XR_938706.1:n.1965G>T (F11)
XR_938707.1:n.1888+678G>T (F11)
XM_005262821.4:c.1560G>T (F11) XP_005262878.1:p.Trp520Cys
XM_005262822.4:c.1483+678G>T (F11) XP_005262879.1:n.1483+678G>T
XM_005262823.4:c.1290G>T (F11) XP_005262880.1:p.Trp430Cys
XM_006714137.3:c.1512G>T (F11) XP_006714200.1:p.Trp504Cys
XR_001741172.2:n.2031G>T (F11)
NM_000128.4:c.1557G>T (F11) MANE Select NP_000119.1:p.Trp519Cys