Canonical Allele Identifier: CA358946090

Linked Data

dbSNP Id: rs764457412

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288520G>T , CM000666.2:g.186288520G>T GRCh38
NC_000004.11:g.187209674G>T , CM000666.1:g.187209674G>T GRCh37
NC_000004.10:g.187446668G>T NCBI36
NG_008051.1:g.27557G>T , LRG_583:g.27557G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1784G>T (F11) MANE Select ENSP00000384957.2:p.Trp595Leu
ENST00000264691.4:c.384G>T (F11)
ENST00000264692.8:c.1622G>T (F11) ENSP00000264692.5:p.Trp541Leu
ENST00000403665.6:c.1784G>T (F11) ENSP00000384957.2:p.Trp595Leu
ENST00000503841.1:n.303G>T (F11)
NM_000128.3:c.1784G>T , LRG_583t1:c.1784G>T (F11) NP_000119.1:p.Trp595Leu
NR_033900.1:n.974C>A (F11-AS1)
XM_005262821.2:c.1787G>T (F11) XP_005262878.1:p.Trp596Leu
XM_005262822.2:c.1691G>T (F11) XP_005262879.1:p.Trp564Leu
XM_005262823.2:c.1517G>T (F11) XP_005262880.1:p.Trp506Leu
XM_006714137.1:c.1739G>T (F11) XP_006714200.1:p.Trp580Leu
XM_005262821.4:c.1787G>T (F11) XP_005262878.1:p.Trp596Leu
XM_005262822.4:c.1691G>T (F11) XP_005262879.1:p.Trp564Leu
XM_005262823.4:c.1517G>T (F11) XP_005262880.1:p.Trp506Leu
XM_006714137.3:c.1739G>T (F11) XP_006714200.1:p.Trp580Leu
NM_000128.4:c.1784G>T (F11) MANE Select NP_000119.1:p.Trp595Leu