Canonical Allele Identifier: CA374972267
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs201768056

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816033C>G , CM000671.2:g.127816033C>G GRCh38
NC_000009.11:g.130578312C>G , CM000671.1:g.130578312C>G GRCh37
NC_000009.10:g.129618133C>G NCBI36
NG_009551.1:g.43736G>C , LRG_589:g.43736G>C
NG_023245.1:g.18159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1216G>C ENSP00000479015.1:p.Val406Leu
ENST00000373203.9:c.1762G>C MANE Select ENSP00000362299.4:p.Val588Leu
ENST00000344849.4:c.1762G>C ENSP00000341917.3:p.Val588Leu
ENST00000373203.8:c.1762G>C ENSP00000362299.4:p.Val588Leu
ENST00000480266.5:c.1216G>C ENSP00000479015.1:p.Val406Leu
NM_000118.3:c.1762G>C , LRG_589t1:c.1762G>C NP_000109.1:p.Val588Leu
NM_001114753.2:c.1762G>C , LRG_589t2:c.1762G>C NP_001108225.1:p.Val588Leu
NM_001278138.1:c.1216G>C NP_001265067.1:p.Val406Leu
NM_001114753.3:c.1762G>C MANE Select NP_001108225.1:p.Val588Leu
NM_001278138.2:c.1216G>C NP_001265067.1:p.Val406Leu