Canonical Allele Identifier: CA358945672

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287785T>C , CM000666.2:g.186287785T>C GRCh38
NC_000004.11:g.187208939T>C , CM000666.1:g.187208939T>C GRCh37
NC_000004.10:g.187445933T>C NCBI36
NG_008051.1:g.26822T>C , LRG_583:g.26822T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1678T>C (F11) MANE Select ENSP00000384957.2:p.Cys560Arg
ENST00000264691.4:c.278T>C (F11)
ENST00000264692.8:c.1516T>C (F11) ENSP00000264692.5:p.Cys506Arg
ENST00000403665.6:c.1678T>C (F11) ENSP00000384957.2:p.Cys560Arg
ENST00000503841.1:n.197T>C (F11)
NM_000128.3:c.1678T>C , LRG_583t1:c.1678T>C (F11) NP_000119.1:p.Cys560Arg
NR_033900.1:n.1066+643A>G (F11-AS1)
XM_005262821.2:c.1681T>C (F11) XP_005262878.1:p.Cys561Arg
XM_005262822.2:c.1585T>C (F11) XP_005262879.1:p.Cys529Arg
XM_005262823.2:c.1411T>C (F11) XP_005262880.1:p.Cys471Arg
XM_006714137.1:c.1633T>C (F11) XP_006714200.1:p.Cys545Arg
XM_005262821.4:c.1681T>C (F11) XP_005262878.1:p.Cys561Arg
XM_005262822.4:c.1585T>C (F11) XP_005262879.1:p.Cys529Arg
XM_005262823.4:c.1411T>C (F11) XP_005262880.1:p.Cys471Arg
XM_006714137.3:c.1633T>C (F11) XP_006714200.1:p.Cys545Arg
NM_000128.4:c.1678T>C (F11) MANE Select NP_000119.1:p.Cys560Arg