Canonical Allele Identifier: CA10632669

Gene: ENG

Linked Data

• ClinVar Variation Id: 365100
• ClinVar RCV Id: RCV000393275 ; RCV001861341
• dbSNP Id: rs546892762
• gnomAD v2: 9-130616749-C-G
• gnomAD v3: 9-127854470-C-G
• gnomAD v4: 9-127854470-C-G
• MyVariant Identifiers: chr9:g.130616749C>G (hg19) ; chr9:g.127854470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854470C>G , CM000671.2:g.127854470C>G	GRCh38
NC_000009.11:g.130616749C>G , CM000671.1:g.130616749C>G	GRCh37
NC_000009.10:g.129656570C>G	NCBI36
NG_009551.1:g.5299G>C , LRG_589:g.5299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.-115G>C MANE Select	ENSP00000362299.4:n.-115G>C
ENST00000344849.4:c.-115G>C	ENSP00000341917.3:n.-115G>C
ENST00000373203.8:c.-115G>C	ENSP00000362299.4:n.-115G>C
NM_000118.3:c.-115G>C , LRG_589t1:c.-115G>C	NP_000109.1:n.-115G>C
NM_001114753.2:c.-115G>C , LRG_589t2:c.-115G>C	NP_001108225.1:n.-115G>C
NM_001114753.3:c.-115G>C MANE Select	NP_001108225.1:n.-115G>C