Canonical Allele Identifier: CA467227967

Gene: ENG

Linked Data

• ClinVar Variation Id: 2164877
• ClinVar RCV Id: RCV003088258
• dbSNP Id: rs1830426140
• gnomAD v4: 9-127819674-G-A
• MyVariant Identifiers: chr9:g.130581953G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819674G>A , CM000671.2:g.127819674G>A	GRCh38
NC_000009.11:g.130581953G>A , CM000671.1:g.130581953G>A	GRCh37
NC_000009.10:g.129621774G>A	NCBI36
NG_009551.1:g.40095C>T , LRG_589:g.40095C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.727-14C>T	ENSP00000479015.1:n.727-14C>T
ENST00000373203.9:c.1273-14C>T MANE Select	ENSP00000362299.4:n.1273-14C>T
ENST00000344849.4:c.1273-14C>T	ENSP00000341917.3:n.1273-14C>T
ENST00000373203.8:c.1273-14C>T	ENSP00000362299.4:n.1273-14C>T
ENST00000480266.5:c.727-14C>T	ENSP00000479015.1:n.727-14C>T
ENST00000486329.1:n.241-14C>T
NM_000118.3:c.1273-14C>T , LRG_589t1:c.1273-14C>T	NP_000109.1:n.1273-14C>T
NM_001114753.2:c.1273-14C>T , LRG_589t2:c.1273-14C>T	NP_001108225.1:n.1273-14C>T
NM_001278138.1:c.727-14C>T	NP_001265067.1:n.727-14C>T
NR_136302.1:n.1568+963G>A
NM_001114753.3:c.1273-14C>T MANE Select	NP_001108225.1:n.1273-14C>T
NM_001278138.2:c.727-14C>T	NP_001265067.1:n.727-14C>T