Canonical Allele Identifier: CA860218361

Gene: ENG

Linked Data

• dbSNP Id: rs1252469485
• gnomAD v4: 9-127815146-A-G
• MyVariant Identifiers: chr9:g.130577425A>G (hg19) ; chr9:g.127815146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815146A>G , CM000671.2:g.127815146A>G	GRCh38
NC_000009.11:g.130577425A>G , CM000671.1:g.130577425A>G	GRCh37
NC_000009.10:g.129617246A>G	NCBI36
NG_009551.1:g.44623T>C , LRG_589:g.44623T>C
NG_023245.1:g.17272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*536T>C	ENSP00000479015.1:n.*536T>C
ENST00000373203.9:c.*536T>C MANE Select	ENSP00000362299.4:n.*536T>C
ENST00000344849.4:c.*771T>C	ENSP00000341917.3:n.*771T>C
ENST00000373203.8:c.*536T>C	ENSP00000362299.4:n.*536T>C
ENST00000480266.5:c.*536T>C	ENSP00000479015.1:n.*536T>C
NM_000118.3:c.*771T>C , LRG_589t1:c.*771T>C	NP_000109.1:n.*771T>C
NM_001114753.2:c.*536T>C , LRG_589t2:c.*536T>C	NP_001108225.1:n.*536T>C
NM_001278138.1:c.*536T>C	NP_001265067.1:n.*536T>C
NM_001114753.3:c.*536T>C MANE Select	NP_001108225.1:n.*536T>C
NM_001278138.2:c.*536T>C	NP_001265067.1:n.*536T>C