Canonical Allele Identifier: CA374973482

Gene: ENG

Linked Data

• ClinVar Variation Id: 582079
• ClinVar RCV Id: RCV000706057
• dbSNP Id: rs1564452024
• MyVariant Identifiers: chr9:g.130579443T>C (hg19) ; chr9:g.127817164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817164T>C , CM000671.2:g.127817164T>C	GRCh38
NC_000009.11:g.130579443T>C , CM000671.1:g.130579443T>C	GRCh37
NC_000009.10:g.129619264T>C	NCBI36
NG_009551.1:g.42605A>G , LRG_589:g.42605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1180A>G	ENSP00000479015.1:p.Ser394Gly
ENST00000373203.9:c.1726A>G MANE Select	ENSP00000362299.4:p.Ser576Gly
ENST00000344849.4:c.1726A>G	ENSP00000341917.3:p.Ser576Gly
ENST00000373203.8:c.1726A>G	ENSP00000362299.4:p.Ser576Gly
ENST00000480266.5:c.1180A>G	ENSP00000479015.1:p.Ser394Gly
NM_000118.3:c.1726A>G , LRG_589t1:c.1726A>G	NP_000109.1:p.Ser576Gly
NM_001114753.2:c.1726A>G , LRG_589t2:c.1726A>G	NP_001108225.1:p.Ser576Gly
NM_001278138.1:c.1180A>G	NP_001265067.1:p.Ser394Gly
XM_011519273.1:c.586T>C	XP_011517575.1:p.Ter196Arg
NR_136302.1:n.1099T>C
NM_001114753.3:c.1726A>G MANE Select	NP_001108225.1:p.Ser576Gly
NM_001278138.2:c.1180A>G	NP_001265067.1:p.Ser394Gly