Canonical Allele Identifier: CA374984317

Gene: ENG

Linked Data

• dbSNP Id: rs1259261969
• gnomAD v3: 9-127826615-A-G
• gnomAD v4: 9-127826615-A-G
• MyVariant Identifiers: chr9:g.130588894A>G (hg19) ; chr9:g.127826615A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826615A>G , CM000671.2:g.127826615A>G	GRCh38
NC_000009.11:g.130588894A>G , CM000671.1:g.130588894A>G	GRCh37
NC_000009.10:g.129628715A>G	NCBI36
NG_009551.1:g.33154T>C , LRG_589:g.33154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-129T>C	ENSP00000479015.1:n.-129T>C
ENST00000373203.9:c.418T>C MANE Select	ENSP00000362299.4:p.Ser140Pro
ENST00000344849.4:c.418T>C	ENSP00000341917.3:p.Ser140Pro
ENST00000373203.8:c.418T>C	ENSP00000362299.4:p.Ser140Pro
ENST00000462196.1:n.318T>C
ENST00000480266.5:c.-129T>C	ENSP00000479015.1:n.-129T>C
NM_000118.3:c.418T>C , LRG_589t1:c.418T>C	NP_000109.1:p.Ser140Pro
NM_001114753.2:c.418T>C , LRG_589t2:c.418T>C	NP_001108225.1:p.Ser140Pro
NM_001278138.1:c.-129T>C	NP_001265067.1:n.-129T>C
XR_001746952.2:n.82+1157A>G
NM_001114753.3:c.418T>C MANE Select	NP_001108225.1:p.Ser140Pro
NM_001278138.2:c.-129T>C	NP_001265067.1:n.-129T>C