Canonical Allele Identifier: CA860218347

Gene: ENG

Linked Data

• dbSNP Id: rs1229240774
• MyVariant Identifiers: chr9:g.130577321G>C (hg19) ; chr9:g.127815042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815042G>C , CM000671.2:g.127815042G>C	GRCh38
NC_000009.11:g.130577321G>C , CM000671.1:g.130577321G>C	GRCh37
NC_000009.10:g.129617142G>C	NCBI36
NG_009551.1:g.44727C>G , LRG_589:g.44727C>G
NG_023245.1:g.17168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*640C>G	ENSP00000479015.1:n.*640C>G
ENST00000373203.9:c.*640C>G MANE Select	ENSP00000362299.4:n.*640C>G
ENST00000344849.4:c.*875C>G	ENSP00000341917.3:n.*875C>G
ENST00000373203.8:c.*640C>G	ENSP00000362299.4:n.*640C>G
ENST00000480266.5:c.*640C>G	ENSP00000479015.1:n.*640C>G
NM_000118.3:c.*875C>G , LRG_589t1:c.*875C>G	NP_000109.1:n.*875C>G
NM_001114753.2:c.*640C>G , LRG_589t2:c.*640C>G	NP_001108225.1:n.*640C>G
NM_001278138.1:c.*640C>G	NP_001265067.1:n.*640C>G
NM_001114753.3:c.*640C>G MANE Select	NP_001108225.1:n.*640C>G
NM_001278138.2:c.*640C>G	NP_001265067.1:n.*640C>G