Allele Registry

Canonical Allele Identifier: CA346329

Gene: ENG HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.127829788G>A

GRCh37 chr9:g.130592067G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000157221

ClinVar Variation:

180348

dbSNP:

730880096

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829788G>A , CM000671.2:g.127829788G>A	GRCh38
NC_000009.11:g.130592067G>A , CM000671.1:g.130592067G>A	GRCh37
NC_000009.10:g.129631888G>A	NCBI36
NG_009551.1:g.29981C>T , LRG_589:g.29981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-288C>T	ENSP00000479015.1:n.-288C>T
ENST00000373203.9:c.259C>T MANE Select	ENSP00000362299.4:p.Gln87Ter
ENST00000344849.4:c.259C>T	ENSP00000341917.3:p.Gln87Ter
ENST00000373203.8:c.259C>T	ENSP00000362299.4:p.Gln87Ter
ENST00000462196.1:n.17C>T
ENST00000480266.5:c.-288C>T	ENSP00000479015.1:n.-288C>T
NM_000118.3:c.259C>T , LRG_589t1:c.259C>T	NP_000109.1:p.Gln87Ter
NM_001114753.2:c.259C>T , LRG_589t2:c.259C>T	NP_001108225.1:p.Gln87Ter
NM_001278138.1:c.-288C>T	NP_001265067.1:n.-288C>T
XR_001746952.2:n.83-2610G>A
NM_001114753.3:c.259C>T MANE Select	NP_001108225.1:p.Gln87Ter
NM_001278138.2:c.-288C>T	NP_001265067.1:n.-288C>T

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