Canonical Allele Identifier: CA16606222

Gene: ENG

Linked Data

• ClinVar Variation Id: 383511
• ClinVar RCV Id: RCV000421678 ; RCV000808225 ; RCV002225104 ; RCV002392990
• dbSNP Id: rs1057521648
• MyVariant Identifiers: chr9:g.130580620G>A (hg19) ; chr9:g.127818341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818341G>A , CM000671.2:g.127818341G>A	GRCh38
NC_000009.11:g.130580620G>A , CM000671.1:g.130580620G>A	GRCh37
NC_000009.10:g.129620441G>A	NCBI36
NG_009551.1:g.41428C>T , LRG_589:g.41428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.919C>T	ENSP00000479015.1:p.Gln307Ter
ENST00000373203.9:c.1465C>T MANE Select	ENSP00000362299.4:p.Gln489Ter
ENST00000344849.4:c.1465C>T	ENSP00000341917.3:p.Gln489Ter
ENST00000373203.8:c.1465C>T	ENSP00000362299.4:p.Gln489Ter
ENST00000480266.5:c.919C>T	ENSP00000479015.1:p.Gln307Ter
NM_000118.3:c.1465C>T , LRG_589t1:c.1465C>T	NP_000109.1:p.Gln489Ter
NM_001114753.2:c.1465C>T , LRG_589t2:c.1465C>T	NP_001108225.1:p.Gln489Ter
NM_001278138.1:c.919C>T	NP_001265067.1:p.Gln307Ter
NR_136302.1:n.1408G>A
NM_001114753.3:c.1465C>T MANE Select	NP_001108225.1:p.Gln489Ter
NM_001278138.2:c.919C>T	NP_001265067.1:p.Gln307Ter