Canonical Allele Identifier: CA1879981565

Gene: ENG

Linked Data

• dbSNP Id: rs1830296496
• gnomAD v4: 9-127815843-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815843G>A , CM000671.2:g.127815843G>A	GRCh38
NC_000009.11:g.130578122G>A , CM000671.1:g.130578122G>A	GRCh37
NC_000009.10:g.129617943G>A	NCBI36
NG_009551.1:g.43926C>T , LRG_589:g.43926C>T
NG_023245.1:g.17969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-37C>T	ENSP00000479015.1:n.1307-37C>T
ENST00000373203.9:c.1853-37C>T MANE Select	ENSP00000362299.4:n.1853-37C>T
ENST00000344849.4:c.*74C>T	ENSP00000341917.3:n.*74C>T
ENST00000373203.8:c.1853-37C>T	ENSP00000362299.4:n.1853-37C>T
ENST00000480266.5:c.1307-37C>T	ENSP00000479015.1:n.1307-37C>T
NM_000118.3:c.*74C>T , LRG_589t1:c.*74C>T	NP_000109.1:n.*74C>T
NM_001114753.2:c.1853-37C>T , LRG_589t2:c.1853-37C>T	NP_001108225.1:n.1853-37C>T
NM_001278138.1:c.1307-37C>T	NP_001265067.1:n.1307-37C>T
NM_001114753.3:c.1853-37C>T MANE Select	NP_001108225.1:n.1853-37C>T
NM_001278138.2:c.1307-37C>T	NP_001265067.1:n.1307-37C>T