Canonical Allele Identifier: CA200300817

Gene: ENG

Linked Data

• ClinVar Variation Id: 913355
• ClinVar RCV Id: RCV001166941
• dbSNP Id: rs41478248
• gnomAD v2: 9-130577641-C-T
• gnomAD v3: 9-127815362-C-T
• gnomAD v4: 9-127815362-C-T
• MyVariant Identifiers: chr9:g.130577641C>T (hg19) ; chr9:g.127815362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815362C>T , CM000671.2:g.127815362C>T	GRCh38
NC_000009.11:g.130577641C>T , CM000671.1:g.130577641C>T	GRCh37
NC_000009.10:g.129617462C>T	NCBI36
NG_009551.1:g.44407G>A , LRG_589:g.44407G>A
NG_023245.1:g.17488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*320G>A	ENSP00000479015.1:n.*320G>A
ENST00000373203.9:c.*320G>A MANE Select	ENSP00000362299.4:n.*320G>A
ENST00000344849.4:c.*555G>A	ENSP00000341917.3:n.*555G>A
ENST00000373203.8:c.*320G>A	ENSP00000362299.4:n.*320G>A
ENST00000480266.5:c.*320G>A	ENSP00000479015.1:n.*320G>A
NM_000118.3:c.*555G>A , LRG_589t1:c.*555G>A	NP_000109.1:n.*555G>A
NM_001114753.2:c.*320G>A , LRG_589t2:c.*320G>A	NP_001108225.1:n.*320G>A
NM_001278138.1:c.*320G>A	NP_001265067.1:n.*320G>A
NM_001114753.3:c.*320G>A MANE Select	NP_001108225.1:n.*320G>A
NM_001278138.2:c.*320G>A	NP_001265067.1:n.*320G>A