Canonical Allele Identifier: CA5253205

Gene: ENG

Linked Data

• ClinVar Variation Id: 237026
• ClinVar RCV Id: RCV000227257 ; RCV000454889 ; RCV001513011 ; RCV003389736
• dbSNP Id: rs370257876
• ExAC: 9:130605351 G / A
• gnomAD v2: 9-130605351-G-A
• gnomAD v3: 9-127843072-G-A
• gnomAD v4: 9-127843072-G-A
• MyVariant Identifiers: chr9:g.130605351G>A (hg19) ; chr9:g.127843072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127843072G>A , CM000671.2:g.127843072G>A	GRCh38
NC_000009.11:g.130605351G>A , CM000671.1:g.130605351G>A	GRCh37
NC_000009.10:g.129645172G>A	NCBI36
NG_009551.1:g.16697C>T , LRG_589:g.16697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-328+22C>T	ENSP00000479015.1:n.-328+22C>T
ENST00000373203.9:c.219+22C>T MANE Select	ENSP00000362299.4:n.219+22C>T
ENST00000344849.4:c.219+22C>T	ENSP00000341917.3:n.219+22C>T
ENST00000373203.8:c.219+22C>T	ENSP00000362299.4:n.219+22C>T
ENST00000480266.5:c.-328+22C>T	ENSP00000479015.1:n.-328+22C>T
NM_000118.3:c.219+22C>T , LRG_589t1:c.219+22C>T	NP_000109.1:n.219+22C>T
NM_001114753.2:c.219+22C>T , LRG_589t2:c.219+22C>T	NP_001108225.1:n.219+22C>T
NM_001278138.1:c.-328+22C>T	NP_001265067.1:n.-328+22C>T
NM_001114753.3:c.219+22C>T MANE Select	NP_001108225.1:n.219+22C>T
NM_001278138.2:c.-328+22C>T	NP_001265067.1:n.-328+22C>T