Canonical Allele Identifier: CA16496819
Gene: EFCAB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.89831931C>T , CM000676.2:g.89831931C>T GRCh38
NC_000014.8:g.90298275C>T , CM000676.1:g.90298275C>T GRCh37
NC_000014.7:g.89368028C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316738.12:c.411-34607G>A MANE Select ENSP00000326267.7:n.411-34607G>A
ENST00000316738.11:c.411-34607G>A ENSP00000326267.7:n.411-34607G>A
ENST00000553871.5:n.457-34607G>A
ENST00000555608.5:n.492-715G>A
ENST00000555872.5:c.339-34607G>A ENSP00000452320.1:n.339-34607G>A
ENST00000556078.1:n.116-32425G>A
ENST00000556609.5:c.267-34607G>A ENSP00000452335.1:n.267-34607G>A
ENST00000556639.5:c.*685-715G>A ENSP00000452397.1:n.*685-715G>A
ENST00000557685.5:c.501-34607G>A ENSP00000452403.1:n.501-34607G>A
NM_001284267.1:c.267-34607G>A NP_001271196.1:n.267-34607G>A
NM_001284269.1:c.339-34607G>A NP_001271198.1:n.339-34607G>A
NM_145231.3:c.411-34607G>A NP_660274.1:n.411-34607G>A
NM_145231.4:c.411-34607G>A MANE Select NP_660274.1:n.411-34607G>A
NM_001284269.2:c.339-34607G>A NP_001271198.1:n.339-34607G>A
NM_001284267.2:c.267-34607G>A NP_001271196.1:n.267-34607G>A