Canonical Allele Identifier: CA1060293742
Gene: CCDC149 HGNC NCBI

Linked Data

dbSNP Id: rs1715374298
gnomAD v3: 4-24821284-C-T
gnomAD v4: 4-24821284-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.24821284C>T , CM000666.2:g.24821284C>T GRCh38
NC_000004.11:g.24822906C>T , CM000666.1:g.24822906C>T GRCh37
NC_000004.10:g.24432004C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635206.3:c.1028-197G>A MANE Select ENSP00000488929.2:n.1028-197G>A
ENST00000635206.2:c.1043-197G>A ENSP00000488929.1:n.1043-197G>A
ENST00000389609.8:c.1042+1213G>A ENSP00000374260.4:n.1042+1213G>A
ENST00000502801.1:c.373-12465G>A ENSP00000427529.1:n.373-12465G>A
ENST00000504487.5:c.1042+1213G>A ENSP00000425715.1:n.1042+1213G>A
ENST00000508236.1:n.550-197G>A
ENST00000635206.1:c.1043-197G>A ENSP00000488929.1:n.1043-197G>A
NM_001130726.2:c.1042+1213G>A NP_001124198.1:n.1042+1213G>A
NM_173463.4:c.1042+1213G>A NP_775734.2:n.1042+1213G>A
XM_005248210.2:c.1043-197G>A XP_005248267.1:n.1043-197G>A
XM_011513906.1:c.1043-197G>A XP_011512208.1:n.1043-197G>A
XM_011513907.1:c.878-197G>A XP_011512209.1:n.878-197G>A
XM_011513908.1:c.878-197G>A XP_011512210.1:n.878-197G>A
NM_001130726.3:c.1042+1213G>A NP_001124198.1:n.1042+1213G>A
NM_001330643.1:c.1043-197G>A NP_001317572.1:n.1043-197G>A
NM_001330644.1:c.877+1213G>A NP_001317573.1:n.877+1213G>A
NM_173463.5:c.1042+1213G>A NP_775734.2:n.1042+1213G>A
XM_011513906.3:c.1043-197G>A XP_011512208.1:n.1043-197G>A
XM_011513907.3:c.878-197G>A XP_011512209.1:n.878-197G>A
XM_011513908.2:c.878-197G>A XP_011512210.1:n.878-197G>A
XM_017008827.2:c.1042+1213G>A XP_016864316.1:n.1042+1213G>A
NM_001130726.4:c.1042+1213G>A NP_001124198.1:n.1042+1213G>A
NM_001330643.2:c.1043-197G>A NP_001317572.1:n.1043-197G>A
NM_001330644.2:c.877+1213G>A NP_001317573.1:n.877+1213G>A
NM_173463.6:c.1042+1213G>A NP_775734.2:n.1042+1213G>A
NM_001130726.5:c.1027+1213G>A NP_001124198.2:n.1027+1213G>A
NM_001395273.1:c.1028-197G>A MANE Select NP_001382202.1:n.1028-197G>A
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