Canonical Allele Identifier: CA5253017

Gene: ENG

Linked Data

• ClinVar Variation Id: 528072
• ClinVar RCV Id: RCV001438451 ; RCV003479179 ; RCV004025424
• dbSNP Id: rs374628465
• ExAC: 9:130587641 G / A
• gnomAD v2: 9-130587641-G-A
• gnomAD v3: 9-127825362-G-A
• gnomAD v4: 9-127825362-G-A
• MyVariant Identifiers: chr9:g.130587641G>A (hg19) ; chr9:g.127825362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825362G>A , CM000671.2:g.127825362G>A	GRCh38
NC_000009.11:g.130587641G>A , CM000671.1:g.130587641G>A	GRCh37
NC_000009.10:g.129627462G>A	NCBI36
NG_009551.1:g.34407C>T , LRG_589:g.34407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.144-5C>T	ENSP00000479015.1:n.144-5C>T
ENST00000373203.9:c.690-5C>T MANE Select	ENSP00000362299.4:n.690-5C>T
ENST00000344849.4:c.690-5C>T	ENSP00000341917.3:n.690-5C>T
ENST00000373203.8:c.690-5C>T	ENSP00000362299.4:n.690-5C>T
ENST00000480266.5:c.144-5C>T	ENSP00000479015.1:n.144-5C>T
NM_000118.3:c.690-5C>T , LRG_589t1:c.690-5C>T	NP_000109.1:n.690-5C>T
NM_001114753.2:c.690-5C>T , LRG_589t2:c.690-5C>T	NP_001108225.1:n.690-5C>T
NM_001278138.1:c.144-5C>T	NP_001265067.1:n.144-5C>T
NM_001114753.3:c.690-5C>T MANE Select	NP_001108225.1:n.690-5C>T
NM_001278138.2:c.144-5C>T	NP_001265067.1:n.144-5C>T