Canonical Allele Identifier: CA358945677

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287787T>G , CM000666.2:g.186287787T>G GRCh38
NC_000004.11:g.187208941T>G , CM000666.1:g.187208941T>G GRCh37
NC_000004.10:g.187445935T>G NCBI36
NG_008051.1:g.26824T>G , LRG_583:g.26824T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1680T>G (F11) MANE Select ENSP00000384957.2:p.Cys560Trp
ENST00000264691.4:c.280T>G (F11)
ENST00000264692.8:c.1518T>G (F11) ENSP00000264692.5:p.Cys506Trp
ENST00000403665.6:c.1680T>G (F11) ENSP00000384957.2:p.Cys560Trp
ENST00000503841.1:n.199T>G (F11)
NM_000128.3:c.1680T>G , LRG_583t1:c.1680T>G (F11) NP_000119.1:p.Cys560Trp
NR_033900.1:n.1066+641A>C (F11-AS1)
XM_005262821.2:c.1683T>G (F11) XP_005262878.1:p.Cys561Trp
XM_005262822.2:c.1587T>G (F11) XP_005262879.1:p.Cys529Trp
XM_005262823.2:c.1413T>G (F11) XP_005262880.1:p.Cys471Trp
XM_006714137.1:c.1635T>G (F11) XP_006714200.1:p.Cys545Trp
XM_005262821.4:c.1683T>G (F11) XP_005262878.1:p.Cys561Trp
XM_005262822.4:c.1587T>G (F11) XP_005262879.1:p.Cys529Trp
XM_005262823.4:c.1413T>G (F11) XP_005262880.1:p.Cys471Trp
XM_006714137.3:c.1635T>G (F11) XP_006714200.1:p.Cys545Trp
NM_000128.4:c.1680T>G (F11) MANE Select NP_000119.1:p.Cys560Trp