Canonical Allele Identifier: CA5252701

Gene: ENG

Linked Data

• ClinVar Variation Id: 528079
• ClinVar RCV Id: RCV001428638
• dbSNP Id: rs372670034
• ExAC: 9:130580391 C / G
• gnomAD v2: 9-130580391-C-G
• gnomAD v3: 9-127818112-C-G
• gnomAD v4: 9-127818112-C-G
• MyVariant Identifiers: chr9:g.130580391C>G (hg19) ; chr9:g.127818112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818112C>G , CM000671.2:g.127818112C>G	GRCh38
NC_000009.11:g.130580391C>G , CM000671.1:g.130580391C>G	GRCh37
NC_000009.10:g.129620212C>G	NCBI36
NG_009551.1:g.41657G>C , LRG_589:g.41657G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1140+8G>C	ENSP00000479015.1:n.1140+8G>C
ENST00000373203.9:c.1686+8G>C MANE Select	ENSP00000362299.4:n.1686+8G>C
ENST00000344849.4:c.1686+8G>C	ENSP00000341917.3:n.1686+8G>C
ENST00000373203.8:c.1686+8G>C	ENSP00000362299.4:n.1686+8G>C
ENST00000480266.5:c.1140+8G>C	ENSP00000479015.1:n.1140+8G>C
NM_000118.3:c.1686+8G>C , LRG_589t1:c.1686+8G>C	NP_000109.1:n.1686+8G>C
NM_001114753.2:c.1686+8G>C , LRG_589t2:c.1686+8G>C	NP_001108225.1:n.1686+8G>C
NM_001278138.1:c.1140+8G>C	NP_001265067.1:n.1140+8G>C
NR_136302.1:n.1378-199C>G
NM_001114753.3:c.1686+8G>C MANE Select	NP_001108225.1:n.1686+8G>C
NM_001278138.2:c.1140+8G>C	NP_001265067.1:n.1140+8G>C