Canonical Allele Identifier: CA9811202
Gene: EFCAB8 HGNC NCBI

Linked Data

dbSNP Id: rs8123073
ExAC: 20:31446858 A / G
gnomAD v2: 20-31446858-A-G
gnomAD v3: 20-32859052-A-G
gnomAD v4: 20-32859052-A-G
MyVariant Identifiers: chr20:g.31446858A>G (hg19) chr20:g.32859052A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32859052A>G , CM000682.2:g.32859052A>G GRCh38
NC_000020.10:g.31446858A>G , CM000682.1:g.31446858A>G GRCh37
NC_000020.9:g.30910519A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000400522.9:c.-11+46A>G MANE Select ENSP00000383366.5:n.-11+46A>G
ENST00000400522.8:c.-11+46A>G ENSP00000383366.5:n.-11+46A>G
NM_001143967.1:c.-11+46A>G NP_001137439.1:n.-11+46A>G
XM_024451882.1:c.-11+46A>G XP_024307650.1:n.-11+46A>G
XM_024451883.1:c.-11+46A>G XP_024307651.1:n.-11+46A>G
XM_024451885.1:c.-11+46A>G XP_024307653.1:n.-11+46A>G
NM_001143967.2:c.-11+46A>G MANE Select NP_001137439.1:n.-11+46A>G
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