Canonical Allele Identifier: CA5253270

Gene: ENG

Linked Data

• ClinVar Variation Id: 986898
• ClinVar RCV Id: RCV001268056 ; RCV001880157 ; RCV002430065 ; RCV003405477
• dbSNP Id: rs756994701
• ExAC: 9:130616644 G / A
• gnomAD v3: 9-127854365-G-A
• gnomAD v4: 9-127854365-G-A
• MyVariant Identifiers: chr9:g.130616644G>A (hg19) ; chr9:g.127854365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854365G>A , CM000671.2:g.127854365G>A	GRCh38
NC_000009.11:g.130616644G>A , CM000671.1:g.130616644G>A	GRCh37
NC_000009.10:g.129656465G>A	NCBI36
NG_009551.1:g.5404C>T , LRG_589:g.5404C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373203.9:c.-10C>T MANE Select	ENSP00000362299.4:n.-10C>T
ENST00000344849.4:c.-10C>T	ENSP00000341917.3:n.-10C>T
ENST00000373203.8:c.-10C>T	ENSP00000362299.4:n.-10C>T
NM_000118.3:c.-10C>T , LRG_589t1:c.-10C>T	NP_000109.1:n.-10C>T
NM_001114753.2:c.-10C>T , LRG_589t2:c.-10C>T	NP_001108225.1:n.-10C>T
NM_001114753.3:c.-10C>T MANE Select	NP_001108225.1:n.-10C>T