Canonical Allele Identifier: CA374975777

Gene: ENG

Linked Data

• gnomAD v4: 9-127818296-C-G
• MyVariant Identifiers: chr9:g.130580575C>G (hg19) ; chr9:g.127818296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818296C>G , CM000671.2:g.127818296C>G	GRCh38
NC_000009.11:g.130580575C>G , CM000671.1:g.130580575C>G	GRCh37
NC_000009.10:g.129620396C>G	NCBI36
NG_009551.1:g.41473G>C , LRG_589:g.41473G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.964G>C	ENSP00000479015.1:p.Val322Leu
ENST00000373203.9:c.1510G>C MANE Select	ENSP00000362299.4:p.Val504Leu
ENST00000344849.4:c.1510G>C	ENSP00000341917.3:p.Val504Leu
ENST00000373203.8:c.1510G>C	ENSP00000362299.4:p.Val504Leu
ENST00000480266.5:c.964G>C	ENSP00000479015.1:p.Val322Leu
NM_000118.3:c.1510G>C , LRG_589t1:c.1510G>C	NP_000109.1:p.Val504Leu
NM_001114753.2:c.1510G>C , LRG_589t2:c.1510G>C	NP_001108225.1:p.Val504Leu
NM_001278138.1:c.964G>C	NP_001265067.1:p.Val322Leu
NR_136302.1:n.1378-15C>G
NM_001114753.3:c.1510G>C MANE Select	NP_001108225.1:p.Val504Leu
NM_001278138.2:c.964G>C	NP_001265067.1:p.Val322Leu