Canonical Allele Identifier: CA200326509

Gene: ENG

Linked Data

• dbSNP Id: rs989800226
• gnomAD v2: 9-130616494-A-C
• gnomAD v3: 9-127854215-A-C
• gnomAD v4: 9-127854215-A-C
• MyVariant Identifiers: chr9:g.130616494A>C (hg19) ; chr9:g.130616494_130616495delinsCG (hg19) ; chr9:g.127854215A>C (hg38) ; chr9:g.127854215_127854216delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854215A>C , CM000671.2:g.127854215A>C	GRCh38
NC_000009.11:g.130616494A>C , CM000671.1:g.130616494A>C	GRCh37
NC_000009.10:g.129656315A>C	NCBI36
NG_009551.1:g.5554T>G , LRG_589:g.5554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.67+74T>G MANE Select	ENSP00000362299.4:n.67+74T>G
ENST00000344849.4:c.67+74T>G	ENSP00000341917.3:n.67+74T>G
ENST00000373203.8:c.67+74T>G	ENSP00000362299.4:n.67+74T>G
NM_000118.3:c.67+74T>G , LRG_589t1:c.67+74T>G	NP_000109.1:n.67+74T>G
NM_001114753.2:c.67+74T>G , LRG_589t2:c.67+74T>G	NP_001108225.1:n.67+74T>G
NM_001114753.3:c.67+74T>G MANE Select	NP_001108225.1:n.67+74T>G