Canonical Allele Identifier: CA358945901

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288478G>T , CM000666.2:g.186288478G>T GRCh38
NC_000004.11:g.187209632G>T , CM000666.1:g.187209632G>T GRCh37
NC_000004.10:g.187446626G>T NCBI36
NG_008051.1:g.27515G>T , LRG_583:g.27515G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1742G>T (F11) MANE Select ENSP00000384957.2:p.Cys581Phe
ENST00000264691.4:c.342G>T (F11)
ENST00000264692.8:c.1580G>T (F11) ENSP00000264692.5:p.Cys527Phe
ENST00000403665.6:c.1742G>T (F11) ENSP00000384957.2:p.Cys581Phe
ENST00000503841.1:n.261G>T (F11)
NM_000128.3:c.1742G>T , LRG_583t1:c.1742G>T (F11) NP_000119.1:p.Cys581Phe
NR_033900.1:n.1016C>A (F11-AS1)
XM_005262821.2:c.1745G>T (F11) XP_005262878.1:p.Cys582Phe
XM_005262822.2:c.1649G>T (F11) XP_005262879.1:p.Cys550Phe
XM_005262823.2:c.1475G>T (F11) XP_005262880.1:p.Cys492Phe
XM_006714137.1:c.1697G>T (F11) XP_006714200.1:p.Cys566Phe
XM_005262821.4:c.1745G>T (F11) XP_005262878.1:p.Cys582Phe
XM_005262822.4:c.1649G>T (F11) XP_005262879.1:p.Cys550Phe
XM_005262823.4:c.1475G>T (F11) XP_005262880.1:p.Cys492Phe
XM_006714137.3:c.1697G>T (F11) XP_006714200.1:p.Cys566Phe
NM_000128.4:c.1742G>T (F11) MANE Select NP_000119.1:p.Cys581Phe