Canonical Allele Identifier: CA211415

Gene: ENG

Linked Data

• ClinVar Variation Id: 161229
• ClinVar RCV Id: RCV000148482 ; RCV000243657 ; RCV000230696 ; RCV000756073 ; RCV001079415 ; RCV002408654
• dbSNP Id: rs148002300
• ExAC: 9:130578230 G / A
• gnomAD v2: 9-130578230-G-A
• gnomAD v3: 9-127815951-G-A
• gnomAD v4: 9-127815951-G-A
• MyVariant Identifiers: chr9:g.130578230G>A (hg19) ; chr9:g.127815951G>A (hg38)
• ERepo: CA211415/MONDO:0008535/136

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815951G>A , CM000671.2:g.127815951G>A	GRCh38
NC_000009.11:g.130578230G>A , CM000671.1:g.130578230G>A	GRCh37
NC_000009.10:g.129618051G>A	NCBI36
NG_009551.1:g.43818C>T , LRG_589:g.43818C>T
NG_023245.1:g.18077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1298C>T	ENSP00000479015.1:p.Ser433Leu
ENST00000373203.9:c.1844C>T MANE Select	ENSP00000362299.4:p.Ser615Leu
ENST00000344849.4:c.1844C>T	ENSP00000341917.3:p.Ser615Leu
ENST00000373203.8:c.1844C>T	ENSP00000362299.4:p.Ser615Leu
ENST00000480266.5:c.1298C>T	ENSP00000479015.1:p.Ser433Leu
NM_000118.3:c.1844C>T , LRG_589t1:c.1844C>T	NP_000109.1:p.Ser615Leu
NM_001114753.2:c.1844C>T , LRG_589t2:c.1844C>T	NP_001108225.1:p.Ser615Leu
NM_001278138.1:c.1298C>T	NP_001265067.1:p.Ser433Leu
NM_001114753.3:c.1844C>T MANE Select	NP_001108225.1:p.Ser615Leu
NM_001278138.2:c.1298C>T	NP_001265067.1:p.Ser433Leu