Canonical Allele Identifier: CA5253263

Gene: ENG

Linked Data

• ClinVar Variation Id: 1597238
• ClinVar RCV Id: RCV002117659 ; RCV002337292
• dbSNP Id: rs768137759
• ExAC: 9:130616590 G / C
• gnomAD v2: 9-130616590-G-C
• gnomAD v3: 9-127854311-G-C
• gnomAD v4: 9-127854311-G-C
• MyVariant Identifiers: chr9:g.130616590G>C (hg19) ; chr9:g.127854311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854311G>C , CM000671.2:g.127854311G>C	GRCh38
NC_000009.11:g.130616590G>C , CM000671.1:g.130616590G>C	GRCh37
NC_000009.10:g.129656411G>C	NCBI36
NG_009551.1:g.5458C>G , LRG_589:g.5458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.45C>G MANE Select	ENSP00000362299.4:p.Ala15=
ENST00000344849.4:c.45C>G	ENSP00000341917.3:p.Ala15=
ENST00000373203.8:c.45C>G	ENSP00000362299.4:p.Ala15=
NM_000118.3:c.45C>G , LRG_589t1:c.45C>G	NP_000109.1:p.Ala15=
NM_001114753.2:c.45C>G , LRG_589t2:c.45C>G	NP_001108225.1:p.Ala15=
NM_001114753.3:c.45C>G MANE Select	NP_001108225.1:p.Ala15=