Canonical Allele Identifier: CA1016994238
Gene: EFCAB8 HGNC NCBI

Linked Data

dbSNP Id: rs1983964097
gnomAD v3: 20-32859015-G-A
gnomAD v4: 20-32859015-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32859015G>A , CM000682.2:g.32859015G>A GRCh38
NC_000020.10:g.31446821G>A , CM000682.1:g.31446821G>A GRCh37
NC_000020.9:g.30910482G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400522.9:c.-11+9G>A MANE Select ENSP00000383366.5:n.-11+9G>A
ENST00000400522.8:c.-11+9G>A ENSP00000383366.5:n.-11+9G>A
NM_001143967.1:c.-11+9G>A NP_001137439.1:n.-11+9G>A
XM_024451882.1:c.-11+9G>A XP_024307650.1:n.-11+9G>A
XM_024451883.1:c.-11+9G>A XP_024307651.1:n.-11+9G>A
XM_024451885.1:c.-11+9G>A XP_024307653.1:n.-11+9G>A
NM_001143967.2:c.-11+9G>A MANE Select NP_001137439.1:n.-11+9G>A
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