Canonical Allele Identifier: CA615931223

Gene: EFCAB11

Linked Data

• dbSNP Id: rs1327344648
• gnomAD v2: 14-90301111-T-G
• gnomAD v3: 14-89834767-T-G
• gnomAD v4: 14-89834767-T-G
• MyVariant Identifiers: chr14:g.90301111T>G (hg19) ; chr14:g.89834767T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.89834767T>G , CM000676.2:g.89834767T>G	GRCh38
NC_000014.8:g.90301111T>G , CM000676.1:g.90301111T>G	GRCh37
NC_000014.7:g.89370864T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316738.12:c.411-37443A>C MANE Select	ENSP00000326267.7:n.411-37443A>C
ENST00000316738.11:c.411-37443A>C	ENSP00000326267.7:n.411-37443A>C
ENST00000553871.5:n.457-37443A>C
ENST00000555608.5:n.492-3551A>C
ENST00000555872.5:c.339-37443A>C	ENSP00000452320.1:n.339-37443A>C
ENST00000556078.1:n.116-35261A>C
ENST00000556609.5:c.267-37443A>C	ENSP00000452335.1:n.267-37443A>C
ENST00000556639.5:c.*584-1590A>C	ENSP00000452397.1:n.*584-1590A>C
ENST00000557685.5:c.501-37443A>C	ENSP00000452403.1:n.501-37443A>C
NM_001284267.1:c.267-37443A>C	NP_001271196.1:n.267-37443A>C
NM_001284269.1:c.339-37443A>C	NP_001271198.1:n.339-37443A>C
NM_145231.3:c.411-37443A>C	NP_660274.1:n.411-37443A>C
NM_145231.4:c.411-37443A>C MANE Select	NP_660274.1:n.411-37443A>C
NM_001284269.2:c.339-37443A>C	NP_001271198.1:n.339-37443A>C
NM_001284267.2:c.267-37443A>C	NP_001271196.1:n.267-37443A>C