Canonical Allele Identifier: CA14786498

Gene: EFCAB8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32943738C>T , CM000682.2:g.32943738C>T	GRCh38
NC_000020.10:g.31531544C>T , CM000682.1:g.31531544C>T	GRCh37
NC_000020.9:g.30995205C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400522.9:c.2893C>T MANE Select	ENSP00000383366.5:p.Gln965Ter
ENST00000400522.8:c.2893C>T	ENSP00000383366.5:p.Gln965Ter
XM_011529121.1:c.2893C>T	XP_011527423.1:p.Gln965Ter
NM_001143967.1:c.2893C>T	NP_001137439.1:p.Gln965Ter
XM_024451881.1:c.2341C>T	XP_024307649.1:p.Gln781Ter
XM_024451882.1:c.2893C>T	XP_024307650.1:p.Gln965Ter
XM_024451883.1:c.2790+12402C>T	XP_024307651.1:n.2790+12402C>T
XM_024451884.1:c.1090C>T	XP_024307652.1:p.Gln364Ter
XM_024451886.1:c.967C>T	XP_024307654.1:p.Gln323Ter
XM_024451887.1:c.967C>T	XP_024307655.1:p.Gln323Ter
NM_001143967.2:c.2893C>T MANE Select	NP_001137439.1:p.Gln965Ter