Canonical Allele Identifier: CA467474512

Gene: ENG

Linked Data

• dbSNP Id: rs1830293393
• gnomAD v3: 9-127815769-A-G
• gnomAD v4: 9-127815769-A-G
• MyVariant Identifiers: chr9:g.130578048A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815769A>G , CM000671.2:g.127815769A>G	GRCh38
NC_000009.11:g.130578048A>G , CM000671.1:g.130578048A>G	GRCh37
NC_000009.10:g.129617869A>G	NCBI36
NG_009551.1:g.44000T>C , LRG_589:g.44000T>C
NG_023245.1:g.17895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1344T>C	ENSP00000479015.1:p.Ala448=
ENST00000373203.9:c.1890T>C MANE Select	ENSP00000362299.4:p.Ala630=
ENST00000344849.4:c.*148T>C	ENSP00000341917.3:n.*148T>C
ENST00000373203.8:c.1890T>C	ENSP00000362299.4:p.Ala630=
ENST00000480266.5:c.1344T>C	ENSP00000479015.1:p.Ala448=
NM_000118.3:c.*148T>C , LRG_589t1:c.*148T>C	NP_000109.1:n.*148T>C
NM_001114753.2:c.1890T>C , LRG_589t2:c.1890T>C	NP_001108225.1:p.Ala630=
NM_001278138.1:c.1344T>C	NP_001265067.1:p.Ala448=
NM_001114753.3:c.1890T>C MANE Select	NP_001108225.1:p.Ala630=
NM_001278138.2:c.1344T>C	NP_001265067.1:p.Ala448=