Canonical Allele Identifier: CA590604953

Gene: ENG

Linked Data

• dbSNP Id: rs560439643
• gnomAD v2: 9-130602324-C-T
• gnomAD v3: 9-127840045-C-T
• gnomAD v4: 9-127840045-C-T
• MyVariant Identifiers: chr9:g.130602324C>T (hg19) ; chr9:g.127840045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127840045C>T , CM000671.2:g.127840045C>T	GRCh38
NC_000009.11:g.130602324C>T , CM000671.1:g.130602324C>T	GRCh37
NC_000009.10:g.129642145C>T	NCBI36
NG_009551.1:g.19724G>A , LRG_589:g.19724G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-328+3049G>A	ENSP00000479015.1:n.-328+3049G>A
ENST00000373203.9:c.219+3049G>A MANE Select	ENSP00000362299.4:n.219+3049G>A
ENST00000344849.4:c.219+3049G>A	ENSP00000341917.3:n.219+3049G>A
ENST00000373203.8:c.219+3049G>A	ENSP00000362299.4:n.219+3049G>A
ENST00000480266.5:c.-328+3049G>A	ENSP00000479015.1:n.-328+3049G>A
NM_000118.3:c.219+3049G>A , LRG_589t1:c.219+3049G>A	NP_000109.1:n.219+3049G>A
NM_001114753.2:c.219+3049G>A , LRG_589t2:c.219+3049G>A	NP_001108225.1:n.219+3049G>A
NM_001278138.1:c.-328+3049G>A	NP_001265067.1:n.-328+3049G>A
NM_001114753.3:c.219+3049G>A MANE Select	NP_001108225.1:n.219+3049G>A
NM_001278138.2:c.-328+3049G>A	NP_001265067.1:n.-328+3049G>A