Canonical Allele Identifier: CA2691805333

Gene: ENG

Linked Data

• gnomAD v4: 9-127815305-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815305T>C , CM000671.2:g.127815305T>C	GRCh38
NC_000009.11:g.130577584T>C , CM000671.1:g.130577584T>C	GRCh37
NC_000009.10:g.129617405T>C	NCBI36
NG_009551.1:g.44464A>G , LRG_589:g.44464A>G
NG_023245.1:g.17431T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*377A>G	ENSP00000479015.1:n.*377A>G
ENST00000373203.9:c.*377A>G MANE Select	ENSP00000362299.4:n.*377A>G
ENST00000344849.4:c.*612A>G	ENSP00000341917.3:n.*612A>G
ENST00000373203.8:c.*377A>G	ENSP00000362299.4:n.*377A>G
ENST00000480266.5:c.*377A>G	ENSP00000479015.1:n.*377A>G
NM_000118.3:c.*612A>G , LRG_589t1:c.*612A>G	NP_000109.1:n.*612A>G
NM_001114753.2:c.*377A>G , LRG_589t2:c.*377A>G	NP_001108225.1:n.*377A>G
NM_001278138.1:c.*377A>G	NP_001265067.1:n.*377A>G
NM_001114753.3:c.*377A>G MANE Select	NP_001108225.1:n.*377A>G
NM_001278138.2:c.*377A>G	NP_001265067.1:n.*377A>G