Canonical Allele Identifier: CA358943852

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286413A>G , CM000666.2:g.186286413A>G GRCh38
NC_000004.11:g.187207567A>G , CM000666.1:g.187207567A>G GRCh37
NC_000004.10:g.187444561A>G NCBI36
NG_008051.1:g.25450A>G , LRG_583:g.25450A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1481-2A>G (F11) MANE Select ENSP00000384957.2:n.1481-2A>G
ENST00000264691.4:c.176+600A>G (F11)
ENST00000264692.8:c.1319-2A>G (F11) ENSP00000264692.5:n.1319-2A>G
ENST00000403665.6:c.1481-2A>G (F11) ENSP00000384957.2:n.1481-2A>G
NM_000128.3:c.1481-2A>G , LRG_583t1:c.1481-2A>G (F11) NP_000119.1:n.1481-2A>G
NR_033900.1:n.1067-147T>C (F11-AS1)
XM_005262821.2:c.1484-2A>G (F11) XP_005262878.1:n.1484-2A>G
XM_005262822.2:c.1483+600A>G (F11) XP_005262879.1:n.1483+600A>G
XM_005262823.2:c.1214-2A>G (F11) XP_005262880.1:n.1214-2A>G
XM_005262824.1:c.1484-133A>G (F11) XP_005262881.1:n.1484-133A>G
XM_006714137.1:c.1436-2A>G (F11) XP_006714200.1:n.1436-2A>G
XR_938706.1:n.1889-2A>G (F11)
XR_938707.1:n.1888+600A>G (F11)
XM_005262821.4:c.1484-2A>G (F11) XP_005262878.1:n.1484-2A>G
XM_005262822.4:c.1483+600A>G (F11) XP_005262879.1:n.1483+600A>G
XM_005262823.4:c.1214-2A>G (F11) XP_005262880.1:n.1214-2A>G
XM_006714137.3:c.1436-2A>G (F11) XP_006714200.1:n.1436-2A>G
XR_001741172.2:n.1955-2A>G (F11)
NM_000128.4:c.1481-2A>G (F11) MANE Select NP_000119.1:n.1481-2A>G