Canonical Allele Identifier: CA211422

Gene: ENG

Linked Data

• ClinVar Variation Id: 161233
• ClinVar RCV Id: RCV000148487 ; RCV000457880 ; RCV000859971 ; RCV003298151 ; RCV003407567 ; RCV000488867
• dbSNP Id: rs150932144
• ExAC: 9:130588023 C / T
• gnomAD v2: 9-130588023-C-T
• gnomAD v3: 9-127825744-C-T
• gnomAD v4: 9-127825744-C-T
• MyVariant Identifiers: chr9:g.130588023C>T (hg19) ; chr9:g.127825744C>T (hg38)
• PubMed: PMID:23298310 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825744C>T , CM000671.2:g.127825744C>T	GRCh38
NC_000009.11:g.130588023C>T , CM000671.1:g.130588023C>T	GRCh37
NC_000009.10:g.129627844C>T	NCBI36
NG_009551.1:g.34025G>A , LRG_589:g.34025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.94G>A	ENSP00000479015.1:p.Gly32Ser
ENST00000373203.9:c.640G>A MANE Select	ENSP00000362299.4:p.Gly214Ser
ENST00000344849.4:c.640G>A	ENSP00000341917.3:p.Gly214Ser
ENST00000373203.8:c.640G>A	ENSP00000362299.4:p.Gly214Ser
ENST00000480266.5:c.94G>A	ENSP00000479015.1:p.Gly32Ser
NM_000118.3:c.640G>A , LRG_589t1:c.640G>A	NP_000109.1:p.Gly214Ser
NM_001114753.2:c.640G>A , LRG_589t2:c.640G>A	NP_001108225.1:p.Gly214Ser
NM_001278138.1:c.94G>A	NP_001265067.1:p.Gly32Ser
XR_001746952.2:n.82+286C>T
NM_001114753.3:c.640G>A MANE Select	NP_001108225.1:p.Gly214Ser
NM_001278138.2:c.94G>A	NP_001265067.1:p.Gly32Ser