Canonical Allele Identifier: CA1879979953
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1439280144

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815108G>C , CM000671.2:g.127815108G>C GRCh38
NC_000009.11:g.130577387G>C , CM000671.1:g.130577387G>C GRCh37
NC_000009.10:g.129617208G>C NCBI36
NG_009551.1:g.44661C>G , LRG_589:g.44661C>G
NG_023245.1:g.17234G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*574C>G ENSP00000479015.1:n.*574C>G
ENST00000373203.9:c.*574C>G MANE Select ENSP00000362299.4:n.*574C>G
ENST00000344849.4:c.*809C>G ENSP00000341917.3:n.*809C>G
ENST00000373203.8:c.*574C>G ENSP00000362299.4:n.*574C>G
ENST00000480266.5:c.*574C>G ENSP00000479015.1:n.*574C>G
NM_000118.3:c.*809C>G , LRG_589t1:c.*809C>G NP_000109.1:n.*809C>G
NM_001114753.2:c.*574C>G , LRG_589t2:c.*574C>G NP_001108225.1:n.*574C>G
NM_001278138.1:c.*574C>G NP_001265067.1:n.*574C>G
NM_001114753.3:c.*574C>G MANE Select NP_001108225.1:n.*574C>G
NM_001278138.2:c.*574C>G NP_001265067.1:n.*574C>G