Canonical Allele Identifier: CA374971499

Gene: ENG

Linked Data

• ClinVar Variation Id: 1477415
• ClinVar RCV Id: RCV002018733
• dbSNP Id: rs2131871398
• MyVariant Identifiers: chr9:g.130578221C>G (hg19) ; chr9:g.127815942C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815942C>G , CM000671.2:g.127815942C>G	GRCh38
NC_000009.11:g.130578221C>G , CM000671.1:g.130578221C>G	GRCh37
NC_000009.10:g.129618042C>G	NCBI36
NG_009551.1:g.43827G>C , LRG_589:g.43827G>C
NG_023245.1:g.18068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+1G>C	ENSP00000479015.1:n.1306+1G>C
ENST00000373203.9:c.1852+1G>C MANE Select	ENSP00000362299.4:n.1852+1G>C
ENST00000344849.4:c.1853G>C	ENSP00000341917.3:p.Arg618Pro
ENST00000373203.8:c.1852+1G>C	ENSP00000362299.4:n.1852+1G>C
ENST00000480266.5:c.1306+1G>C	ENSP00000479015.1:n.1306+1G>C
NM_000118.3:c.1853G>C , LRG_589t1:c.1853G>C	NP_000109.1:p.Arg618Pro
NM_001114753.2:c.1852+1G>C , LRG_589t2:c.1852+1G>C	NP_001108225.1:n.1852+1G>C
NM_001278138.1:c.1306+1G>C	NP_001265067.1:n.1306+1G>C
NM_001114753.3:c.1852+1G>C MANE Select	NP_001108225.1:n.1852+1G>C
NM_001278138.2:c.1306+1G>C	NP_001265067.1:n.1306+1G>C