Canonical Allele Identifier: CA358946287

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288586G>A , CM000666.2:g.186288586G>A GRCh38
NC_000004.11:g.187209740G>A , CM000666.1:g.187209740G>A GRCh37
NC_000004.10:g.187446734G>A NCBI36
NG_008051.1:g.27623G>A , LRG_583:g.27623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1850G>A (F11) MANE Select ENSP00000384957.2:p.Trp617Ter
ENST00000264691.4:c.450G>A (F11)
ENST00000264692.8:c.1688G>A (F11) ENSP00000264692.5:p.Trp563Ter
ENST00000403665.6:c.1850G>A (F11) ENSP00000384957.2:p.Trp617Ter
ENST00000503841.1:n.369G>A (F11)
NM_000128.3:c.1850G>A , LRG_583t1:c.1850G>A (F11) NP_000119.1:p.Trp617Ter
NR_033900.1:n.908C>T (F11-AS1)
XM_005262821.2:c.1853G>A (F11) XP_005262878.1:p.Trp618Ter
XM_005262822.2:c.1757G>A (F11) XP_005262879.1:p.Trp586Ter
XM_005262823.2:c.1583G>A (F11) XP_005262880.1:p.Trp528Ter
XM_006714137.1:c.1805G>A (F11) XP_006714200.1:p.Trp602Ter
XM_005262821.4:c.1853G>A (F11) XP_005262878.1:p.Trp618Ter
XM_005262822.4:c.1757G>A (F11) XP_005262879.1:p.Trp586Ter
XM_005262823.4:c.1583G>A (F11) XP_005262880.1:p.Trp528Ter
XM_006714137.3:c.1805G>A (F11) XP_006714200.1:p.Trp602Ter
NM_000128.4:c.1850G>A (F11) MANE Select NP_000119.1:p.Trp617Ter