Canonical Allele Identifier: CA374978093

Gene: ENG

Linked Data

• gnomAD v4: 9-127819648-T-C
• MyVariant Identifiers: chr9:g.130581927T>C (hg19) ; chr9:g.127819648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819648T>C , CM000671.2:g.127819648T>C	GRCh38
NC_000009.11:g.130581927T>C , CM000671.1:g.130581927T>C	GRCh37
NC_000009.10:g.129621748T>C	NCBI36
NG_009551.1:g.40121A>G , LRG_589:g.40121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.739A>G	ENSP00000479015.1:p.Ile247Val
ENST00000373203.9:c.1285A>G MANE Select	ENSP00000362299.4:p.Ile429Val
ENST00000344849.4:c.1285A>G	ENSP00000341917.3:p.Ile429Val
ENST00000373203.8:c.1285A>G	ENSP00000362299.4:p.Ile429Val
ENST00000480266.5:c.739A>G	ENSP00000479015.1:p.Ile247Val
ENST00000486329.1:n.253A>G
NM_000118.3:c.1285A>G , LRG_589t1:c.1285A>G	NP_000109.1:p.Ile429Val
NM_001114753.2:c.1285A>G , LRG_589t2:c.1285A>G	NP_001108225.1:p.Ile429Val
NM_001278138.1:c.739A>G	NP_001265067.1:p.Ile247Val
NR_136302.1:n.1568+937T>C
NM_001114753.3:c.1285A>G MANE Select	NP_001108225.1:p.Ile429Val
NM_001278138.2:c.739A>G	NP_001265067.1:p.Ile247Val