Canonical Allele Identifier: CA374983469

Gene: ENG

Linked Data

• ClinVar Variation Id: 593503
• ClinVar RCV Id: RCV000728561 ; RCV001383205
• dbSNP Id: rs1564455970
• MyVariant Identifiers: chr9:g.130587638T>A (hg19) ; chr9:g.127825359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825359T>A , CM000671.2:g.127825359T>A	GRCh38
NC_000009.11:g.130587638T>A , CM000671.1:g.130587638T>A	GRCh37
NC_000009.10:g.129627459T>A	NCBI36
NG_009551.1:g.34410A>T , LRG_589:g.34410A>T

Transcript Alleles

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