Canonical Allele Identifier: CA467474531

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130578054C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815775C>G , CM000671.2:g.127815775C>G	GRCh38
NC_000009.11:g.130578054C>G , CM000671.1:g.130578054C>G	GRCh37
NC_000009.10:g.129617875C>G	NCBI36
NG_009551.1:g.43994G>C , LRG_589:g.43994G>C
NG_023245.1:g.17901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1338G>C	ENSP00000479015.1:p.Ala446=
ENST00000373203.9:c.1884G>C MANE Select	ENSP00000362299.4:p.Ala628=
ENST00000344849.4:c.*142G>C	ENSP00000341917.3:n.*142G>C
ENST00000373203.8:c.1884G>C	ENSP00000362299.4:p.Ala628=
ENST00000480266.5:c.1338G>C	ENSP00000479015.1:p.Ala446=
NM_000118.3:c.*142G>C , LRG_589t1:c.*142G>C	NP_000109.1:n.*142G>C
NM_001114753.2:c.1884G>C , LRG_589t2:c.1884G>C	NP_001108225.1:p.Ala628=
NM_001278138.1:c.1338G>C	NP_001265067.1:p.Ala446=
NM_001114753.3:c.1884G>C MANE Select	NP_001108225.1:p.Ala628=
NM_001278138.2:c.1338G>C	NP_001265067.1:p.Ala446=