Canonical Allele Identifier: CA5252645

Gene: ENG

Linked Data

• ClinVar Variation Id: 2162710
• ClinVar RCV Id: RCV003070381
• dbSNP Id: rs753536186
• ExAC: 9:130578348 G / A
• gnomAD v2: 9-130578348-G-A
• gnomAD v3: 9-127816069-G-A
• gnomAD v4: 9-127816069-G-A
• MyVariant Identifiers: chr9:g.130578348G>A (hg19) ; chr9:g.127816069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816069G>A , CM000671.2:g.127816069G>A	GRCh38
NC_000009.11:g.130578348G>A , CM000671.1:g.130578348G>A	GRCh37
NC_000009.10:g.129618169G>A	NCBI36
NG_009551.1:g.43700C>T , LRG_589:g.43700C>T
NG_023245.1:g.18195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1196-16C>T	ENSP00000479015.1:n.1196-16C>T
ENST00000373203.9:c.1742-16C>T MANE Select	ENSP00000362299.4:n.1742-16C>T
ENST00000344849.4:c.1742-16C>T	ENSP00000341917.3:n.1742-16C>T
ENST00000373203.8:c.1742-16C>T	ENSP00000362299.4:n.1742-16C>T
ENST00000480266.5:c.1196-16C>T	ENSP00000479015.1:n.1196-16C>T
NM_000118.3:c.1742-16C>T , LRG_589t1:c.1742-16C>T	NP_000109.1:n.1742-16C>T
NM_001114753.2:c.1742-16C>T , LRG_589t2:c.1742-16C>T	NP_001108225.1:n.1742-16C>T
NM_001278138.1:c.1196-16C>T	NP_001265067.1:n.1196-16C>T
XM_011519273.1:c.-510G>A	XP_011517575.1:n.-510G>A
NR_136302.1:n.4G>A
NM_001114753.3:c.1742-16C>T MANE Select	NP_001108225.1:n.1742-16C>T
NM_001278138.2:c.1196-16C>T	NP_001265067.1:n.1196-16C>T