Canonical Allele Identifier: CA467474493

Gene: ENG

Linked Data

• ClinVar Variation Id: 3232715
• ClinVar RCV Id: RCV004523347
• dbSNP Id: rs1390519046
• gnomAD v2: 9-130578292-G-C
• gnomAD v4: 9-127816013-G-C
• MyVariant Identifiers: chr9:g.130578292G>C (hg19) ; chr9:g.127816013G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816013G>C , CM000671.2:g.127816013G>C	GRCh38
NC_000009.11:g.130578292G>C , CM000671.1:g.130578292G>C	GRCh37
NC_000009.10:g.129618113G>C	NCBI36
NG_009551.1:g.43756C>G , LRG_589:g.43756C>G
NG_023245.1:g.18139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1236C>G	ENSP00000479015.1:p.Gly412=
ENST00000373203.9:c.1782C>G MANE Select	ENSP00000362299.4:p.Gly594=
ENST00000344849.4:c.1782C>G	ENSP00000341917.3:p.Gly594=
ENST00000373203.8:c.1782C>G	ENSP00000362299.4:p.Gly594=
ENST00000480266.5:c.1236C>G	ENSP00000479015.1:p.Gly412=
NM_000118.3:c.1782C>G , LRG_589t1:c.1782C>G	NP_000109.1:p.Gly594=
NM_001114753.2:c.1782C>G , LRG_589t2:c.1782C>G	NP_001108225.1:p.Gly594=
NM_001278138.1:c.1236C>G	NP_001265067.1:p.Gly412=
NM_001114753.3:c.1782C>G MANE Select	NP_001108225.1:p.Gly594=
NM_001278138.2:c.1236C>G	NP_001265067.1:p.Gly412=