Canonical Allele Identifier: CA358946072

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288516A>C , CM000666.2:g.186288516A>C GRCh38
NC_000004.11:g.187209670A>C , CM000666.1:g.187209670A>C GRCh37
NC_000004.10:g.187446664A>C NCBI36
NG_008051.1:g.27553A>C , LRG_583:g.27553A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1780A>C (F11) MANE Select ENSP00000384957.2:p.Ser594Arg
ENST00000264691.4:c.380A>C (F11)
ENST00000264692.8:c.1618A>C (F11) ENSP00000264692.5:p.Ser540Arg
ENST00000403665.6:c.1780A>C (F11) ENSP00000384957.2:p.Ser594Arg
ENST00000503841.1:n.299A>C (F11)
NM_000128.3:c.1780A>C , LRG_583t1:c.1780A>C (F11) NP_000119.1:p.Ser594Arg
NR_033900.1:n.978T>G (F11-AS1)
XM_005262821.2:c.1783A>C (F11) XP_005262878.1:p.Ser595Arg
XM_005262822.2:c.1687A>C (F11) XP_005262879.1:p.Ser563Arg
XM_005262823.2:c.1513A>C (F11) XP_005262880.1:p.Ser505Arg
XM_006714137.1:c.1735A>C (F11) XP_006714200.1:p.Ser579Arg
XM_005262821.4:c.1783A>C (F11) XP_005262878.1:p.Ser595Arg
XM_005262822.4:c.1687A>C (F11) XP_005262879.1:p.Ser563Arg
XM_005262823.4:c.1513A>C (F11) XP_005262880.1:p.Ser505Arg
XM_006714137.3:c.1735A>C (F11) XP_006714200.1:p.Ser579Arg
NM_000128.4:c.1780A>C (F11) MANE Select NP_000119.1:p.Ser594Arg