Canonical Allele Identifier: CA16612528

Gene: ENG

Linked Data

• ClinVar Variation Id: 407115
• ClinVar RCV Id: RCV000462769 ; RCV000791420 ; RCV001531114 ; RCV002379438
• dbSNP Id: rs1060501410
• gnomAD v2: 9-130587079-C-T
• gnomAD v4: 9-127824800-C-T
• COSMIC: COSM1105419 ; COSM4872271
• MyVariant Identifiers: chr9:g.130587079C>T (hg19) ; chr9:g.127824800C>T (hg38)
• ERepo: CA16612528/MONDO:0008535/136

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824800C>T , CM000671.2:g.127824800C>T	GRCh38
NC_000009.11:g.130587079C>T , CM000671.1:g.130587079C>T	GRCh37
NC_000009.10:g.129626900C>T	NCBI36
NG_009551.1:g.34969G>A , LRG_589:g.34969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.445G>A	ENSP00000479015.1:p.Gly149Ser
ENST00000373203.9:c.991G>A MANE Select	ENSP00000362299.4:p.Gly331Ser
ENST00000344849.4:c.991G>A	ENSP00000341917.3:p.Gly331Ser
ENST00000373203.8:c.991G>A	ENSP00000362299.4:p.Gly331Ser
ENST00000480266.5:c.445G>A	ENSP00000479015.1:p.Gly149Ser
NM_000118.3:c.991G>A , LRG_589t1:c.991G>A	NP_000109.1:p.Gly331Ser
NM_001114753.2:c.991G>A , LRG_589t2:c.991G>A	NP_001108225.1:p.Gly331Ser
NM_001278138.1:c.445G>A	NP_001265067.1:p.Gly149Ser
NM_001114753.3:c.991G>A MANE Select	NP_001108225.1:p.Gly331Ser
NM_001278138.2:c.445G>A	NP_001265067.1:p.Gly149Ser