Canonical Allele Identifier: CA358945622

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287765A>C , CM000666.2:g.186287765A>C GRCh38
NC_000004.11:g.187208919A>C , CM000666.1:g.187208919A>C GRCh37
NC_000004.10:g.187445913A>C NCBI36
NG_008051.1:g.26802A>C , LRG_583:g.26802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1658A>C (F11) MANE Select ENSP00000384957.2:p.Lys553Thr
ENST00000264691.4:c.258A>C (F11)
ENST00000264692.8:c.1496A>C (F11) ENSP00000264692.5:p.Lys499Thr
ENST00000403665.6:c.1658A>C (F11) ENSP00000384957.2:p.Lys553Thr
ENST00000503841.1:n.177A>C (F11)
NM_000128.3:c.1658A>C , LRG_583t1:c.1658A>C (F11) NP_000119.1:p.Lys553Thr
NR_033900.1:n.1066+663T>G (F11-AS1)
XM_005262821.2:c.1661A>C (F11) XP_005262878.1:p.Lys554Thr
XM_005262822.2:c.1565A>C (F11) XP_005262879.1:p.Lys522Thr
XM_005262823.2:c.1391A>C (F11) XP_005262880.1:p.Lys464Thr
XM_006714137.1:c.1613A>C (F11) XP_006714200.1:p.Lys538Thr
XM_005262821.4:c.1661A>C (F11) XP_005262878.1:p.Lys554Thr
XM_005262822.4:c.1565A>C (F11) XP_005262879.1:p.Lys522Thr
XM_005262823.4:c.1391A>C (F11) XP_005262880.1:p.Lys464Thr
XM_006714137.3:c.1613A>C (F11) XP_006714200.1:p.Lys538Thr
NM_000128.4:c.1658A>C (F11) MANE Select NP_000119.1:p.Lys553Thr