Canonical Allele Identifier: CA590939359

Gene: ENG

Linked Data

• dbSNP Id: rs527434253
• gnomAD v2: 9-130578110-G-T
• gnomAD v4: 9-127815831-G-T
• MyVariant Identifiers: chr9:g.130578110G>T (hg19) ; chr9:g.127815831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815831G>T , CM000671.2:g.127815831G>T	GRCh38
NC_000009.11:g.130578110G>T , CM000671.1:g.130578110G>T	GRCh37
NC_000009.10:g.129617931G>T	NCBI36
NG_009551.1:g.43938C>A , LRG_589:g.43938C>A
NG_023245.1:g.17957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-25C>A	ENSP00000479015.1:n.1307-25C>A
ENST00000373203.9:c.1853-25C>A MANE Select	ENSP00000362299.4:n.1853-25C>A
ENST00000344849.4:c.*86C>A	ENSP00000341917.3:n.*86C>A
ENST00000373203.8:c.1853-25C>A	ENSP00000362299.4:n.1853-25C>A
ENST00000480266.5:c.1307-25C>A	ENSP00000479015.1:n.1307-25C>A
NM_000118.3:c.*86C>A , LRG_589t1:c.*86C>A	NP_000109.1:n.*86C>A
NM_001114753.2:c.1853-25C>A , LRG_589t2:c.1853-25C>A	NP_001108225.1:n.1853-25C>A
NM_001278138.1:c.1307-25C>A	NP_001265067.1:n.1307-25C>A
NM_001114753.3:c.1853-25C>A MANE Select	NP_001108225.1:n.1853-25C>A
NM_001278138.2:c.1307-25C>A	NP_001265067.1:n.1307-25C>A