Canonical Allele Identifier: CA442641374

Linked Data

ClinVar Variation Id: 1143417
ClinVar RCV Id: RCV001481588
dbSNP Id: rs2126791307
MyVariant Identifiers: chr4:g.187209669G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288515G>A , CM000666.2:g.186288515G>A GRCh38
NC_000004.11:g.187209669G>A , CM000666.1:g.187209669G>A GRCh37
NC_000004.10:g.187446663G>A NCBI36
NG_008051.1:g.27552G>A , LRG_583:g.27552G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1779G>A (F11) MANE Select ENSP00000384957.2:p.Thr593=
ENST00000264691.4:c.379G>A (F11)
ENST00000264692.8:c.1617G>A (F11) ENSP00000264692.5:p.Thr539=
ENST00000403665.6:c.1779G>A (F11) ENSP00000384957.2:p.Thr593=
ENST00000503841.1:n.298G>A (F11)
NM_000128.3:c.1779G>A , LRG_583t1:c.1779G>A (F11) NP_000119.1:p.Thr593=
NR_033900.1:n.979C>T (F11-AS1)
XM_005262821.2:c.1782G>A (F11) XP_005262878.1:p.Thr594=
XM_005262822.2:c.1686G>A (F11) XP_005262879.1:p.Thr562=
XM_005262823.2:c.1512G>A (F11) XP_005262880.1:p.Thr504=
XM_006714137.1:c.1734G>A (F11) XP_006714200.1:p.Thr578=
XM_005262821.4:c.1782G>A (F11) XP_005262878.1:p.Thr594=
XM_005262822.4:c.1686G>A (F11) XP_005262879.1:p.Thr562=
XM_005262823.4:c.1512G>A (F11) XP_005262880.1:p.Thr504=
XM_006714137.3:c.1734G>A (F11) XP_006714200.1:p.Thr578=
NM_000128.4:c.1779G>A (F11) MANE Select NP_000119.1:p.Thr593=