Canonical Allele Identifier: CA374971339

Gene: ENG

Linked Data

• gnomAD v4: 9-127815929-C-A
• MyVariant Identifiers: chr9:g.130578208C>A (hg19) ; chr9:g.127815929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815929C>A , CM000671.2:g.127815929C>A	GRCh38
NC_000009.11:g.130578208C>A , CM000671.1:g.130578208C>A	GRCh37
NC_000009.10:g.129618029C>A	NCBI36
NG_009551.1:g.43840G>T , LRG_589:g.43840G>T
NG_023245.1:g.18055C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1306+14G>T	ENSP00000479015.1:n.1306+14G>T
ENST00000373203.9:c.1852+14G>T MANE Select	ENSP00000362299.4:n.1852+14G>T
ENST00000344849.4:c.1866G>T	ENSP00000341917.3:p.Arg622Ser
ENST00000373203.8:c.1852+14G>T	ENSP00000362299.4:n.1852+14G>T
ENST00000480266.5:c.1306+14G>T	ENSP00000479015.1:n.1306+14G>T
NM_000118.3:c.1866G>T , LRG_589t1:c.1866G>T	NP_000109.1:p.Arg622Ser
NM_001114753.2:c.1852+14G>T , LRG_589t2:c.1852+14G>T	NP_001108225.1:n.1852+14G>T
NM_001278138.1:c.1306+14G>T	NP_001265067.1:n.1306+14G>T
NM_001114753.3:c.1852+14G>T MANE Select	NP_001108225.1:n.1852+14G>T
NM_001278138.2:c.1306+14G>T	NP_001265067.1:n.1306+14G>T