Canonical Allele Identifier: CA200326505

Gene: ENG

Linked Data

• dbSNP Id: rs558404062
• gnomAD v2: 9-130616472-G-A
• gnomAD v3: 9-127854193-G-A
• gnomAD v4: 9-127854193-G-A
• MyVariant Identifiers: chr9:g.130616472G>A (hg19) ; chr9:g.127854193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854193G>A , CM000671.2:g.127854193G>A	GRCh38
NC_000009.11:g.130616472G>A , CM000671.1:g.130616472G>A	GRCh37
NC_000009.10:g.129656293G>A	NCBI36
NG_009551.1:g.5576C>T , LRG_589:g.5576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.67+96C>T MANE Select	ENSP00000362299.4:n.67+96C>T
ENST00000344849.4:c.67+96C>T	ENSP00000341917.3:n.67+96C>T
ENST00000373203.8:c.67+96C>T	ENSP00000362299.4:n.67+96C>T
NM_000118.3:c.67+96C>T , LRG_589t1:c.67+96C>T	NP_000109.1:n.67+96C>T
NM_001114753.2:c.67+96C>T , LRG_589t2:c.67+96C>T	NP_001108225.1:n.67+96C>T
NM_001114753.3:c.67+96C>T MANE Select	NP_001108225.1:n.67+96C>T