Canonical Allele Identifier: CA374982452

Gene: ENG

Linked Data

• ClinVar Variation Id: 618623
• ClinVar RCV Id: RCV002370008 ; RCV003594026
• dbSNP Id: rs1335718486
• gnomAD v4: 9-127824892-A-G
• MyVariant Identifiers: chr9:g.130587171A>G (hg19) ; chr9:g.127824892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824892A>G , CM000671.2:g.127824892A>G	GRCh38
NC_000009.11:g.130587171A>G , CM000671.1:g.130587171A>G	GRCh37
NC_000009.10:g.129626992A>G	NCBI36
NG_009551.1:g.34877T>C , LRG_589:g.34877T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.353T>C	ENSP00000479015.1:p.Leu118Pro
ENST00000373203.9:c.899T>C MANE Select	ENSP00000362299.4:p.Leu300Pro
ENST00000344849.4:c.899T>C	ENSP00000341917.3:p.Leu300Pro
ENST00000373203.8:c.899T>C	ENSP00000362299.4:p.Leu300Pro
ENST00000480266.5:c.353T>C	ENSP00000479015.1:p.Leu118Pro
NM_000118.3:c.899T>C , LRG_589t1:c.899T>C	NP_000109.1:p.Leu300Pro
NM_001114753.2:c.899T>C , LRG_589t2:c.899T>C	NP_001108225.1:p.Leu300Pro
NM_001278138.1:c.353T>C	NP_001265067.1:p.Leu118Pro
NM_001114753.3:c.899T>C MANE Select	NP_001108225.1:p.Leu300Pro
NM_001278138.2:c.353T>C	NP_001265067.1:p.Leu118Pro