Canonical Allele Identifier: CA358945558

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287737G>A , CM000666.2:g.186287737G>A GRCh38
NC_000004.11:g.187208891G>A , CM000666.1:g.187208891G>A GRCh37
NC_000004.10:g.187445885G>A NCBI36
NG_008051.1:g.26774G>A , LRG_583:g.26774G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1630G>A (F11) MANE Select ENSP00000384957.2:p.Glu544Lys
ENST00000264691.4:c.230G>A (F11)
ENST00000264692.8:c.1468G>A (F11) ENSP00000264692.5:p.Glu490Lys
ENST00000403665.6:c.1630G>A (F11) ENSP00000384957.2:p.Glu544Lys
ENST00000503841.1:n.149G>A (F11)
NM_000128.3:c.1630G>A , LRG_583t1:c.1630G>A (F11) NP_000119.1:p.Glu544Lys
NR_033900.1:n.1066+691C>T (F11-AS1)
XM_005262821.2:c.1633G>A (F11) XP_005262878.1:p.Glu545Lys
XM_005262822.2:c.1537G>A (F11) XP_005262879.1:p.Glu513Lys
XM_005262823.2:c.1363G>A (F11) XP_005262880.1:p.Glu455Lys
XM_006714137.1:c.1585G>A (F11) XP_006714200.1:p.Glu529Lys
XR_938707.1:n.1942G>A (F11)
XM_005262821.4:c.1633G>A (F11) XP_005262878.1:p.Glu545Lys
XM_005262822.4:c.1537G>A (F11) XP_005262879.1:p.Glu513Lys
XM_005262823.4:c.1363G>A (F11) XP_005262880.1:p.Glu455Lys
XM_006714137.3:c.1585G>A (F11) XP_006714200.1:p.Glu529Lys
NM_000128.4:c.1630G>A (F11) MANE Select NP_000119.1:p.Glu544Lys