Canonical Allele Identifier: CA313203455

Gene: EFCAB8

Linked Data

• dbSNP Id: rs898332634
• gnomAD v2: 20-31446802-A-T
• gnomAD v3: 20-32858996-A-T
• gnomAD v4: 20-32858996-A-T
• MyVariant Identifiers: chr20:g.31446802A>T (hg19) ; chr20:g.32858996A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32858996A>T , CM000682.2:g.32858996A>T	GRCh38
NC_000020.10:g.31446802A>T , CM000682.1:g.31446802A>T	GRCh37
NC_000020.9:g.30910463A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400522.9:c.-21A>T MANE Select	ENSP00000383366.5:n.-21A>T
ENST00000400522.8:c.-21A>T	ENSP00000383366.5:n.-21A>T
NM_001143967.1:c.-21A>T	NP_001137439.1:n.-21A>T
XM_024451882.1:c.-21A>T	XP_024307650.1:n.-21A>T
XM_024451883.1:c.-21A>T	XP_024307651.1:n.-21A>T
XM_024451885.1:c.-21A>T	XP_024307653.1:n.-21A>T
NM_001143967.2:c.-21A>T MANE Select	NP_001137439.1:n.-21A>T