Canonical Allele Identifier: CA358945575

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287743C>A , CM000666.2:g.186287743C>A GRCh38
NC_000004.11:g.187208897C>A , CM000666.1:g.187208897C>A GRCh37
NC_000004.10:g.187445891C>A NCBI36
NG_008051.1:g.26780C>A , LRG_583:g.26780C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1636C>A (F11) MANE Select ENSP00000384957.2:p.Gln546Lys
ENST00000264691.4:c.236C>A (F11)
ENST00000264692.8:c.1474C>A (F11) ENSP00000264692.5:p.Gln492Lys
ENST00000403665.6:c.1636C>A (F11) ENSP00000384957.2:p.Gln546Lys
ENST00000503841.1:n.155C>A (F11)
NM_000128.3:c.1636C>A , LRG_583t1:c.1636C>A (F11) NP_000119.1:p.Gln546Lys
NR_033900.1:n.1066+685G>T (F11-AS1)
XM_005262821.2:c.1639C>A (F11) XP_005262878.1:p.Gln547Lys
XM_005262822.2:c.1543C>A (F11) XP_005262879.1:p.Gln515Lys
XM_005262823.2:c.1369C>A (F11) XP_005262880.1:p.Gln457Lys
XM_006714137.1:c.1591C>A (F11) XP_006714200.1:p.Gln531Lys
XR_938707.1:n.1948C>A (F11)
XM_005262821.4:c.1639C>A (F11) XP_005262878.1:p.Gln547Lys
XM_005262822.4:c.1543C>A (F11) XP_005262879.1:p.Gln515Lys
XM_005262823.4:c.1369C>A (F11) XP_005262880.1:p.Gln457Lys
XM_006714137.3:c.1591C>A (F11) XP_006714200.1:p.Gln531Lys
NM_000128.4:c.1636C>A (F11) MANE Select NP_000119.1:p.Gln546Lys