Canonical Allele Identifier: CA374982438

Gene: ENG

Linked Data

• ClinVar Variation Id: 1014794
• ClinVar RCV Id: RCV001313577
• dbSNP Id: rs1830569316
• gnomAD v4: 9-127824890-C-G
• MyVariant Identifiers: chr9:g.130587169C>G (hg19) ; chr9:g.127824890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824890C>G , CM000671.2:g.127824890C>G	GRCh38
NC_000009.11:g.130587169C>G , CM000671.1:g.130587169C>G	GRCh37
NC_000009.10:g.129626990C>G	NCBI36
NG_009551.1:g.34879G>C , LRG_589:g.34879G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.355G>C	ENSP00000479015.1:p.Gly119Arg
ENST00000373203.9:c.901G>C MANE Select	ENSP00000362299.4:p.Gly301Arg
ENST00000344849.4:c.901G>C	ENSP00000341917.3:p.Gly301Arg
ENST00000373203.8:c.901G>C	ENSP00000362299.4:p.Gly301Arg
ENST00000480266.5:c.355G>C	ENSP00000479015.1:p.Gly119Arg
NM_000118.3:c.901G>C , LRG_589t1:c.901G>C	NP_000109.1:p.Gly301Arg
NM_001114753.2:c.901G>C , LRG_589t2:c.901G>C	NP_001108225.1:p.Gly301Arg
NM_001278138.1:c.355G>C	NP_001265067.1:p.Gly119Arg
NM_001114753.3:c.901G>C MANE Select	NP_001108225.1:p.Gly301Arg
NM_001278138.2:c.355G>C	NP_001265067.1:p.Gly119Arg