Canonical Allele Identifier: CA1129272902

Gene: ENG

Linked Data

• dbSNP Id: rs1830274252
• gnomAD v3: 9-127815180-G-C
• gnomAD v4: 9-127815180-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815180G>C , CM000671.2:g.127815180G>C	GRCh38
NC_000009.11:g.130577459G>C , CM000671.1:g.130577459G>C	GRCh37
NC_000009.10:g.129617280G>C	NCBI36
NG_009551.1:g.44589C>G , LRG_589:g.44589C>G
NG_023245.1:g.17306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*502C>G	ENSP00000479015.1:n.*502C>G
ENST00000373203.9:c.*502C>G MANE Select	ENSP00000362299.4:n.*502C>G
ENST00000344849.4:c.*737C>G	ENSP00000341917.3:n.*737C>G
ENST00000373203.8:c.*502C>G	ENSP00000362299.4:n.*502C>G
ENST00000480266.5:c.*502C>G	ENSP00000479015.1:n.*502C>G
NM_000118.3:c.*737C>G , LRG_589t1:c.*737C>G	NP_000109.1:n.*737C>G
NM_001114753.2:c.*502C>G , LRG_589t2:c.*502C>G	NP_001108225.1:n.*502C>G
NM_001278138.1:c.*502C>G	NP_001265067.1:n.*502C>G
NM_001114753.3:c.*502C>G MANE Select	NP_001108225.1:n.*502C>G
NM_001278138.2:c.*502C>G	NP_001265067.1:n.*502C>G