Canonical Allele Identifier: CA358945604

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287756G>C , CM000666.2:g.186287756G>C GRCh38
NC_000004.11:g.187208910G>C , CM000666.1:g.187208910G>C GRCh37
NC_000004.10:g.187445904G>C NCBI36
NG_008051.1:g.26793G>C , LRG_583:g.26793G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1649G>C (F11) MANE Select ENSP00000384957.2:p.Arg550Thr
ENST00000264691.4:c.249G>C (F11)
ENST00000264692.8:c.1487G>C (F11) ENSP00000264692.5:p.Arg496Thr
ENST00000403665.6:c.1649G>C (F11) ENSP00000384957.2:p.Arg550Thr
ENST00000503841.1:n.168G>C (F11)
NM_000128.3:c.1649G>C , LRG_583t1:c.1649G>C (F11) NP_000119.1:p.Arg550Thr
NR_033900.1:n.1066+672C>G (F11-AS1)
XM_005262821.2:c.1652G>C (F11) XP_005262878.1:p.Arg551Thr
XM_005262822.2:c.1556G>C (F11) XP_005262879.1:p.Arg519Thr
XM_005262823.2:c.1382G>C (F11) XP_005262880.1:p.Arg461Thr
XM_006714137.1:c.1604G>C (F11) XP_006714200.1:p.Arg535Thr
XR_938707.1:n.1961G>C (F11)
XM_005262821.4:c.1652G>C (F11) XP_005262878.1:p.Arg551Thr
XM_005262822.4:c.1556G>C (F11) XP_005262879.1:p.Arg519Thr
XM_005262823.4:c.1382G>C (F11) XP_005262880.1:p.Arg461Thr
XM_006714137.3:c.1604G>C (F11) XP_006714200.1:p.Arg535Thr
NM_000128.4:c.1649G>C (F11) MANE Select NP_000119.1:p.Arg550Thr