Canonical Allele Identifier: CA358946210

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288547G>T , CM000666.2:g.186288547G>T GRCh38
NC_000004.11:g.187209701G>T , CM000666.1:g.187209701G>T GRCh37
NC_000004.10:g.187446695G>T NCBI36
NG_008051.1:g.27584G>T , LRG_583:g.27584G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1811G>T (F11) MANE Select ENSP00000384957.2:p.Arg604Leu
ENST00000264691.4:c.411G>T (F11)
ENST00000264692.8:c.1649G>T (F11) ENSP00000264692.5:p.Arg550Leu
ENST00000403665.6:c.1811G>T (F11) ENSP00000384957.2:p.Arg604Leu
ENST00000503841.1:n.330G>T (F11)
NM_000128.3:c.1811G>T , LRG_583t1:c.1811G>T (F11) NP_000119.1:p.Arg604Leu
NR_033900.1:n.947C>A (F11-AS1)
XM_005262821.2:c.1814G>T (F11) XP_005262878.1:p.Arg605Leu
XM_005262822.2:c.1718G>T (F11) XP_005262879.1:p.Arg573Leu
XM_005262823.2:c.1544G>T (F11) XP_005262880.1:p.Arg515Leu
XM_006714137.1:c.1766G>T (F11) XP_006714200.1:p.Arg589Leu
XM_005262821.4:c.1814G>T (F11) XP_005262878.1:p.Arg605Leu
XM_005262822.4:c.1718G>T (F11) XP_005262879.1:p.Arg573Leu
XM_005262823.4:c.1544G>T (F11) XP_005262880.1:p.Arg515Leu
XM_006714137.3:c.1766G>T (F11) XP_006714200.1:p.Arg589Leu
NM_000128.4:c.1811G>T (F11) MANE Select NP_000119.1:p.Arg604Leu