Canonical Allele Identifier: CA358945450

Linked Data

ClinVar Variation Id: 989870
ClinVar RCV Id: RCV001277773
dbSNP Id: rs777039574

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287686A>G , CM000666.2:g.186287686A>G GRCh38
NC_000004.11:g.187208840A>G , CM000666.1:g.187208840A>G GRCh37
NC_000004.10:g.187445834A>G NCBI36
NG_008051.1:g.26723A>G , LRG_583:g.26723A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1579A>G (F11) MANE Select ENSP00000384957.2:p.Lys527Glu
ENST00000264691.4:c.179A>G (F11)
ENST00000264692.8:c.1417A>G (F11) ENSP00000264692.5:p.Lys473Glu
ENST00000403665.6:c.1579A>G (F11) ENSP00000384957.2:p.Lys527Glu
ENST00000503841.1:n.98A>G (F11)
NM_000128.3:c.1579A>G , LRG_583t1:c.1579A>G (F11) NP_000119.1:p.Lys527Glu
NR_033900.1:n.1066+742T>C (F11-AS1)
XM_005262821.2:c.1582A>G (F11) XP_005262878.1:p.Lys528Glu
XM_005262822.2:c.1486A>G (F11) XP_005262879.1:p.Lys496Glu
XM_005262823.2:c.1312A>G (F11) XP_005262880.1:p.Lys438Glu
XM_006714137.1:c.1534A>G (F11) XP_006714200.1:p.Lys512Glu
XR_938706.1:n.1987A>G (F11)
XR_938707.1:n.1891A>G (F11)
XM_005262821.4:c.1582A>G (F11) XP_005262878.1:p.Lys528Glu
XM_005262822.4:c.1486A>G (F11) XP_005262879.1:p.Lys496Glu
XM_005262823.4:c.1312A>G (F11) XP_005262880.1:p.Lys438Glu
XM_006714137.3:c.1534A>G (F11) XP_006714200.1:p.Lys512Glu
NM_000128.4:c.1579A>G (F11) MANE Select NP_000119.1:p.Lys527Glu