Canonical Allele Identifier: CA2739716313
Gene: EFCAB8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32859002T>G , CM000682.2:g.32859002T>G GRCh38
NC_000020.10:g.31446808T>G , CM000682.1:g.31446808T>G GRCh37
NC_000020.9:g.30910469T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400522.9:c.-15T>G MANE Select ENSP00000383366.5:n.-15T>G
ENST00000400522.8:c.-15T>G ENSP00000383366.5:n.-15T>G
NM_001143967.1:c.-15T>G NP_001137439.1:n.-15T>G
XM_024451882.1:c.-15T>G XP_024307650.1:n.-15T>G
XM_024451883.1:c.-15T>G XP_024307651.1:n.-15T>G
XM_024451885.1:c.-15T>G XP_024307653.1:n.-15T>G
NM_001143967.2:c.-15T>G MANE Select NP_001137439.1:n.-15T>G