Canonical Allele Identifier: CA590606721

Gene: ENG

Linked Data

• dbSNP Id: rs1463403600
• gnomAD v2: 9-130616553-T-C
• gnomAD v4: 9-127854274-T-C
• MyVariant Identifiers: chr9:g.130616553T>C (hg19) ; chr9:g.127854274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854274T>C , CM000671.2:g.127854274T>C	GRCh38
NC_000009.11:g.130616553T>C , CM000671.1:g.130616553T>C	GRCh37
NC_000009.10:g.129656374T>C	NCBI36
NG_009551.1:g.5495A>G , LRG_589:g.5495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373203.9:c.67+15A>G MANE Select	ENSP00000362299.4:n.67+15A>G
ENST00000344849.4:c.67+15A>G	ENSP00000341917.3:n.67+15A>G
ENST00000373203.8:c.67+15A>G	ENSP00000362299.4:n.67+15A>G
NM_000118.3:c.67+15A>G , LRG_589t1:c.67+15A>G	NP_000109.1:n.67+15A>G
NM_001114753.2:c.67+15A>G , LRG_589t2:c.67+15A>G	NP_001108225.1:n.67+15A>G
NM_001114753.3:c.67+15A>G MANE Select	NP_001108225.1:n.67+15A>G