Canonical Allele Identifier: CA5253184

Gene: ENG

Linked Data

• ClinVar Variation Id: 365096
• ClinVar RCV Id: RCV000262783 ; RCV001861340
• dbSNP Id: rs756342212
• ExAC: 9:130592112 G / T
• gnomAD v2: 9-130592112-G-T
• gnomAD v3: 9-127829833-G-T
• gnomAD v4: 9-127829833-G-T
• MyVariant Identifiers: chr9:g.130592112G>T (hg19) ; chr9:g.127829833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829833G>T , CM000671.2:g.127829833G>T	GRCh38
NC_000009.11:g.130592112G>T , CM000671.1:g.130592112G>T	GRCh37
NC_000009.10:g.129631933G>T	NCBI36
NG_009551.1:g.29936C>A , LRG_589:g.29936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-6C>A	ENSP00000479015.1:n.-327-6C>A
ENST00000373203.9:c.220-6C>A MANE Select	ENSP00000362299.4:n.220-6C>A
ENST00000344849.4:c.220-6C>A	ENSP00000341917.3:n.220-6C>A
ENST00000373203.8:c.220-6C>A	ENSP00000362299.4:n.220-6C>A
ENST00000480266.5:c.-327-6C>A	ENSP00000479015.1:n.-327-6C>A
NM_000118.3:c.220-6C>A , LRG_589t1:c.220-6C>A	NP_000109.1:n.220-6C>A
NM_001114753.2:c.220-6C>A , LRG_589t2:c.220-6C>A	NP_001108225.1:n.220-6C>A
NM_001278138.1:c.-327-6C>A	NP_001265067.1:n.-327-6C>A
XR_001746952.2:n.83-2565G>T
NM_001114753.3:c.220-6C>A MANE Select	NP_001108225.1:n.220-6C>A
NM_001278138.2:c.-327-6C>A	NP_001265067.1:n.-327-6C>A