Canonical Allele Identifier: CA358943920

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286424G>C , CM000666.2:g.186286424G>C GRCh38
NC_000004.11:g.187207578G>C , CM000666.1:g.187207578G>C GRCh37
NC_000004.10:g.187444572G>C NCBI36
NG_008051.1:g.25461G>C , LRG_583:g.25461G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1490G>C (F11) MANE Select ENSP00000384957.2:p.Arg497Pro
ENST00000264691.4:c.176+611G>C (F11)
ENST00000264692.8:c.1328G>C (F11) ENSP00000264692.5:p.Arg443Pro
ENST00000403665.6:c.1490G>C (F11) ENSP00000384957.2:p.Arg497Pro
NM_000128.3:c.1490G>C , LRG_583t1:c.1490G>C (F11) NP_000119.1:p.Arg497Pro
NR_033900.1:n.1067-158C>G (F11-AS1)
XM_005262821.2:c.1493G>C (F11) XP_005262878.1:p.Arg498Pro
XM_005262822.2:c.1483+611G>C (F11) XP_005262879.1:n.1483+611G>C
XM_005262823.2:c.1223G>C (F11) XP_005262880.1:p.Arg408Pro
XM_005262824.1:c.1484-122G>C (F11) XP_005262881.1:n.1484-122G>C
XM_006714137.1:c.1445G>C (F11) XP_006714200.1:p.Arg482Pro
XR_938706.1:n.1898G>C (F11)
XR_938707.1:n.1888+611G>C (F11)
XM_005262821.4:c.1493G>C (F11) XP_005262878.1:p.Arg498Pro
XM_005262822.4:c.1483+611G>C (F11) XP_005262879.1:n.1483+611G>C
XM_005262823.4:c.1223G>C (F11) XP_005262880.1:p.Arg408Pro
XM_006714137.3:c.1445G>C (F11) XP_006714200.1:p.Arg482Pro
XR_001741172.2:n.1964G>C (F11)
NM_000128.4:c.1490G>C (F11) MANE Select NP_000119.1:p.Arg497Pro