Canonical Allele Identifier: CA658797298

Gene: ENG

Linked Data

• ClinVar Variation Id: 528048
• ClinVar RCV Id: RCV002233941
• dbSNP Id: rs1419279746
• gnomAD v3: 9-127843091-C-T
• gnomAD v4: 9-127843091-C-T
• MyVariant Identifiers: chr9:g.130605370C>T (hg19) ; chr9:g.127843091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127843091C>T , CM000671.2:g.127843091C>T	GRCh38
NC_000009.11:g.130605370C>T , CM000671.1:g.130605370C>T	GRCh37
NC_000009.10:g.129645191C>T	NCBI36
NG_009551.1:g.16678G>A , LRG_589:g.16678G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-328+3G>A	ENSP00000479015.1:n.-328+3G>A
ENST00000373203.9:c.219+3G>A MANE Select	ENSP00000362299.4:n.219+3G>A
ENST00000344849.4:c.219+3G>A	ENSP00000341917.3:n.219+3G>A
ENST00000373203.8:c.219+3G>A	ENSP00000362299.4:n.219+3G>A
ENST00000480266.5:c.-328+3G>A	ENSP00000479015.1:n.-328+3G>A
NM_000118.3:c.219+3G>A , LRG_589t1:c.219+3G>A	NP_000109.1:n.219+3G>A
NM_001114753.2:c.219+3G>A , LRG_589t2:c.219+3G>A	NP_001108225.1:n.219+3G>A
NM_001278138.1:c.-328+3G>A	NP_001265067.1:n.-328+3G>A
NM_001114753.3:c.219+3G>A MANE Select	NP_001108225.1:n.219+3G>A
NM_001278138.2:c.-328+3G>A	NP_001265067.1:n.-328+3G>A