Canonical Allele Identifier: CA5253269

Gene: ENG

Linked Data

• ClinVar Variation Id: 414302
• ClinVar RCV Id: RCV000460114 ; RCV001000139 ; RCV001085762 ; RCV002383874 ; RCV003230510 ; RCV003925345
• dbSNP Id: rs368423516
• ExAC: 9:130616643 C / T
• gnomAD v2: 9-130616643-C-T
• gnomAD v3: 9-127854364-C-T
• gnomAD v4: 9-127854364-C-T
• MyVariant Identifiers: chr9:g.130616643C>T (hg19) ; chr9:g.127854364C>T (hg38)
• ERepo: CA5253269/MONDO:0008535/136

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854364C>T , CM000671.2:g.127854364C>T	GRCh38
NC_000009.11:g.130616643C>T , CM000671.1:g.130616643C>T	GRCh37
NC_000009.10:g.129656464C>T	NCBI36
NG_009551.1:g.5405G>A , LRG_589:g.5405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.-9G>A MANE Select	ENSP00000362299.4:n.-9G>A
ENST00000344849.4:c.-9G>A	ENSP00000341917.3:n.-9G>A
ENST00000373203.8:c.-9G>A	ENSP00000362299.4:n.-9G>A
NM_000118.3:c.-9G>A , LRG_589t1:c.-9G>A	NP_000109.1:n.-9G>A
NM_001114753.2:c.-9G>A , LRG_589t2:c.-9G>A	NP_001108225.1:n.-9G>A
NM_001114753.3:c.-9G>A MANE Select	NP_001108225.1:n.-9G>A