Canonical Allele Identifier: CA1139659923

Gene: ENG

Linked Data

• ClinVar Variation Id: 912989
• ClinVar RCV Id: RCV001166409
• dbSNP Id: rs1482022005

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815258C>G , CM000671.2:g.127815258C>G	GRCh38
NC_000009.11:g.130577537C>G , CM000671.1:g.130577537C>G	GRCh37
NC_000009.10:g.129617358C>G	NCBI36
NG_009551.1:g.44511G>C , LRG_589:g.44511G>C
NG_023245.1:g.17384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*424G>C	ENSP00000479015.1:n.*424G>C
ENST00000373203.9:c.*424G>C MANE Select	ENSP00000362299.4:n.*424G>C
ENST00000344849.4:c.*659G>C	ENSP00000341917.3:n.*659G>C
ENST00000373203.8:c.*424G>C	ENSP00000362299.4:n.*424G>C
ENST00000480266.5:c.*424G>C	ENSP00000479015.1:n.*424G>C
NM_000118.3:c.*659G>C , LRG_589t1:c.*659G>C	NP_000109.1:n.*659G>C
NM_001114753.2:c.*424G>C , LRG_589t2:c.*424G>C	NP_001108225.1:n.*424G>C
NM_001278138.1:c.*424G>C	NP_001265067.1:n.*424G>C
NM_001114753.3:c.*424G>C MANE Select	NP_001108225.1:n.*424G>C
NM_001278138.2:c.*424G>C	NP_001265067.1:n.*424G>C