Canonical Allele Identifier: CA358946061

Linked Data

ClinVar Variation Id: 2893640
ClinVar RCV Id: RCV003732919

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288513A>T , CM000666.2:g.186288513A>T GRCh38
NC_000004.11:g.187209667A>T , CM000666.1:g.187209667A>T GRCh37
NC_000004.10:g.187446661A>T NCBI36
NG_008051.1:g.27550A>T , LRG_583:g.27550A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1777A>T (F11) MANE Select ENSP00000384957.2:p.Thr593Ser
ENST00000264691.4:c.377A>T (F11)
ENST00000264692.8:c.1615A>T (F11) ENSP00000264692.5:p.Thr539Ser
ENST00000403665.6:c.1777A>T (F11) ENSP00000384957.2:p.Thr593Ser
ENST00000503841.1:n.296A>T (F11)
NM_000128.3:c.1777A>T , LRG_583t1:c.1777A>T (F11) NP_000119.1:p.Thr593Ser
NR_033900.1:n.981T>A (F11-AS1)
XM_005262821.2:c.1780A>T (F11) XP_005262878.1:p.Thr594Ser
XM_005262822.2:c.1684A>T (F11) XP_005262879.1:p.Thr562Ser
XM_005262823.2:c.1510A>T (F11) XP_005262880.1:p.Thr504Ser
XM_006714137.1:c.1732A>T (F11) XP_006714200.1:p.Thr578Ser
XM_005262821.4:c.1780A>T (F11) XP_005262878.1:p.Thr594Ser
XM_005262822.4:c.1684A>T (F11) XP_005262879.1:p.Thr562Ser
XM_005262823.4:c.1510A>T (F11) XP_005262880.1:p.Thr504Ser
XM_006714137.3:c.1732A>T (F11) XP_006714200.1:p.Thr578Ser
NM_000128.4:c.1777A>T (F11) MANE Select NP_000119.1:p.Thr593Ser