Canonical Allele Identifier: CA2652429197
Gene: EFCAB8 HGNC NCBI

Linked Data

gnomAD v4: 20-32858995-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32858995A>G , CM000682.2:g.32858995A>G GRCh38
NC_000020.10:g.31446801A>G , CM000682.1:g.31446801A>G GRCh37
NC_000020.9:g.30910462A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400522.9:c.-22A>G MANE Select ENSP00000383366.5:n.-22A>G
ENST00000400522.8:c.-22A>G ENSP00000383366.5:n.-22A>G
NM_001143967.1:c.-22A>G NP_001137439.1:n.-22A>G
XM_024451882.1:c.-22A>G XP_024307650.1:n.-22A>G
XM_024451883.1:c.-22A>G XP_024307651.1:n.-22A>G
XM_024451885.1:c.-22A>G XP_024307653.1:n.-22A>G
NM_001143967.2:c.-22A>G MANE Select NP_001137439.1:n.-22A>G
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