Canonical Allele Identifier: CA313203472
Gene: EFCAB8 HGNC NCBI

Linked Data

dbSNP Id: rs991791777
gnomAD v2: 20-31446840-C-T
gnomAD v3: 20-32859034-C-T
gnomAD v4: 20-32859034-C-T
MyVariant Identifiers: chr20:g.31446840C>T (hg19) chr20:g.32859034C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32859034C>T , CM000682.2:g.32859034C>T GRCh38
NC_000020.10:g.31446840C>T , CM000682.1:g.31446840C>T GRCh37
NC_000020.9:g.30910501C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400522.9:c.-11+28C>T MANE Select ENSP00000383366.5:n.-11+28C>T
ENST00000400522.8:c.-11+28C>T ENSP00000383366.5:n.-11+28C>T
NM_001143967.1:c.-11+28C>T NP_001137439.1:n.-11+28C>T
XM_024451882.1:c.-11+28C>T XP_024307650.1:n.-11+28C>T
XM_024451883.1:c.-11+28C>T XP_024307651.1:n.-11+28C>T
XM_024451885.1:c.-11+28C>T XP_024307653.1:n.-11+28C>T
NM_001143967.2:c.-11+28C>T MANE Select NP_001137439.1:n.-11+28C>T
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