Canonical Allele Identifier: CA200315374

Gene: ENG

Linked Data

• dbSNP Id: rs770783787
• gnomAD v4: 9-127829657-T-C
• MyVariant Identifiers: chr9:g.130591936T>C (hg19) ; chr9:g.127829657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829657T>C , CM000671.2:g.127829657T>C	GRCh38
NC_000009.11:g.130591936T>C , CM000671.1:g.130591936T>C	GRCh37
NC_000009.10:g.129631757T>C	NCBI36
NG_009551.1:g.30112A>G , LRG_589:g.30112A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-187+30A>G	ENSP00000479015.1:n.-187+30A>G
ENST00000373203.9:c.360+30A>G MANE Select	ENSP00000362299.4:n.360+30A>G
ENST00000344849.4:c.360+30A>G	ENSP00000341917.3:n.360+30A>G
ENST00000373203.8:c.360+30A>G	ENSP00000362299.4:n.360+30A>G
ENST00000462196.1:n.118+30A>G
ENST00000480266.5:c.-187+30A>G	ENSP00000479015.1:n.-187+30A>G
NM_000118.3:c.360+30A>G , LRG_589t1:c.360+30A>G	NP_000109.1:n.360+30A>G
NM_001114753.2:c.360+30A>G , LRG_589t2:c.360+30A>G	NP_001108225.1:n.360+30A>G
NM_001278138.1:c.-187+30A>G	NP_001265067.1:n.-187+30A>G
XR_001746952.2:n.83-2741T>C
NM_001114753.3:c.360+30A>G MANE Select	NP_001108225.1:n.360+30A>G
NM_001278138.2:c.-187+30A>G	NP_001265067.1:n.-187+30A>G