Canonical Allele Identifier: CA5252826

Gene: ENG

Linked Data

• dbSNP Id: rs758497499
• ExAC: 9:130581962 C / T
• gnomAD v2: 9-130581962-C-T
• gnomAD v4: 9-127819683-C-T
• MyVariant Identifiers: chr9:g.130581962C>T (hg19) ; chr9:g.127819683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819683C>T , CM000671.2:g.127819683C>T	GRCh38
NC_000009.11:g.130581962C>T , CM000671.1:g.130581962C>T	GRCh37
NC_000009.10:g.129621783C>T	NCBI36
NG_009551.1:g.40086G>A , LRG_589:g.40086G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.727-23G>A	ENSP00000479015.1:n.727-23G>A
ENST00000373203.9:c.1273-23G>A MANE Select	ENSP00000362299.4:n.1273-23G>A
ENST00000344849.4:c.1273-23G>A	ENSP00000341917.3:n.1273-23G>A
ENST00000373203.8:c.1273-23G>A	ENSP00000362299.4:n.1273-23G>A
ENST00000480266.5:c.727-23G>A	ENSP00000479015.1:n.727-23G>A
ENST00000486329.1:n.241-23G>A
NM_000118.3:c.1273-23G>A , LRG_589t1:c.1273-23G>A	NP_000109.1:n.1273-23G>A
NM_001114753.2:c.1273-23G>A , LRG_589t2:c.1273-23G>A	NP_001108225.1:n.1273-23G>A
NM_001278138.1:c.727-23G>A	NP_001265067.1:n.727-23G>A
NR_136302.1:n.1568+972C>T
NM_001114753.3:c.1273-23G>A MANE Select	NP_001108225.1:n.1273-23G>A
NM_001278138.2:c.727-23G>A	NP_001265067.1:n.727-23G>A