Canonical Allele Identifier: CA3164108

Linked Data

ClinVar Variation Id: 1693889
ClinVar RCV Id: RCV002261758
dbSNP Id: rs149873248

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288463G>A , CM000666.2:g.186288463G>A GRCh38
NC_000004.11:g.187209617G>A , CM000666.1:g.187209617G>A GRCh37
NC_000004.10:g.187446611G>A NCBI36
NG_008051.1:g.27500G>A , LRG_583:g.27500G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1727G>A (F11) MANE Select ENSP00000384957.2:p.Gly576Glu
ENST00000264691.4:c.327G>A (F11)
ENST00000264692.8:c.1565G>A (F11) ENSP00000264692.5:p.Gly522Glu
ENST00000403665.6:c.1727G>A (F11) ENSP00000384957.2:p.Gly576Glu
ENST00000503841.1:n.246G>A (F11)
NM_000128.3:c.1727G>A , LRG_583t1:c.1727G>A (F11) NP_000119.1:p.Gly576Glu
NR_033900.1:n.1031C>T (F11-AS1)
XM_005262821.2:c.1730G>A (F11) XP_005262878.1:p.Gly577Glu
XM_005262822.2:c.1634G>A (F11) XP_005262879.1:p.Gly545Glu
XM_005262823.2:c.1460G>A (F11) XP_005262880.1:p.Gly487Glu
XM_006714137.1:c.1682G>A (F11) XP_006714200.1:p.Gly561Glu
XM_005262821.4:c.1730G>A (F11) XP_005262878.1:p.Gly577Glu
XM_005262822.4:c.1634G>A (F11) XP_005262879.1:p.Gly545Glu
XM_005262823.4:c.1460G>A (F11) XP_005262880.1:p.Gly487Glu
XM_006714137.3:c.1682G>A (F11) XP_006714200.1:p.Gly561Glu
NM_000128.4:c.1727G>A (F11) MANE Select NP_000119.1:p.Gly576Glu