Canonical Allele Identifier: CA3164074

Linked Data

dbSNP Id: rs759511804

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287804G>A , CM000666.2:g.186287804G>A GRCh38
NC_000004.11:g.187208958G>A , CM000666.1:g.187208958G>A GRCh37
NC_000004.10:g.187445952G>A NCBI36
NG_008051.1:g.26841G>A , LRG_583:g.26841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1697G>A (F11) MANE Select ENSP00000384957.2:p.Gly566Glu
ENST00000264691.4:c.297G>A (F11)
ENST00000264692.8:c.1535G>A (F11) ENSP00000264692.5:p.Gly512Glu
ENST00000403665.6:c.1697G>A (F11) ENSP00000384957.2:p.Gly566Glu
ENST00000503841.1:n.216G>A (F11)
NM_000128.3:c.1697G>A , LRG_583t1:c.1697G>A (F11) NP_000119.1:p.Gly566Glu
NR_033900.1:n.1066+624C>T (F11-AS1)
XM_005262821.2:c.1700G>A (F11) XP_005262878.1:p.Gly567Glu
XM_005262822.2:c.1604G>A (F11) XP_005262879.1:p.Gly535Glu
XM_005262823.2:c.1430G>A (F11) XP_005262880.1:p.Gly477Glu
XM_006714137.1:c.1652G>A (F11) XP_006714200.1:p.Gly551Glu
XM_005262821.4:c.1700G>A (F11) XP_005262878.1:p.Gly567Glu
XM_005262822.4:c.1604G>A (F11) XP_005262879.1:p.Gly535Glu
XM_005262823.4:c.1430G>A (F11) XP_005262880.1:p.Gly477Glu
XM_006714137.3:c.1652G>A (F11) XP_006714200.1:p.Gly551Glu
NM_000128.4:c.1697G>A (F11) MANE Select NP_000119.1:p.Gly566Glu