Canonical Allele Identifier: CA374970838

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130578074T>G (hg19) ; chr9:g.127815795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815795T>G , CM000671.2:g.127815795T>G	GRCh38
NC_000009.11:g.130578074T>G , CM000671.1:g.130578074T>G	GRCh37
NC_000009.10:g.129617895T>G	NCBI36
NG_009551.1:g.43974A>C , LRG_589:g.43974A>C
NG_023245.1:g.17921T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1318A>C	ENSP00000479015.1:p.Lys440Gln
ENST00000373203.9:c.1864A>C MANE Select	ENSP00000362299.4:p.Lys622Gln
ENST00000344849.4:c.*122A>C	ENSP00000341917.3:n.*122A>C
ENST00000373203.8:c.1864A>C	ENSP00000362299.4:p.Lys622Gln
ENST00000480266.5:c.1318A>C	ENSP00000479015.1:p.Lys440Gln
NM_000118.3:c.*122A>C , LRG_589t1:c.*122A>C	NP_000109.1:n.*122A>C
NM_001114753.2:c.1864A>C , LRG_589t2:c.1864A>C	NP_001108225.1:p.Lys622Gln
NM_001278138.1:c.1318A>C	NP_001265067.1:p.Lys440Gln
NM_001114753.3:c.1864A>C MANE Select	NP_001108225.1:p.Lys622Gln
NM_001278138.2:c.1318A>C	NP_001265067.1:p.Lys440Gln