Canonical Allele Identifier: CA5253262

Gene: ENG

Linked Data

• ClinVar Variation Id: 1358073
• ClinVar RCV Id: RCV001878539
• dbSNP Id: rs540893029
• ExAC: 9:130616587 G / C
• gnomAD v2: 9-130616587-G-C
• gnomAD v3: 9-127854308-G-C
• gnomAD v4: 9-127854308-G-C
• MyVariant Identifiers: chr9:g.130616587G>C (hg19) ; chr9:g.127854308G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854308G>C , CM000671.2:g.127854308G>C	GRCh38
NC_000009.11:g.130616587G>C , CM000671.1:g.130616587G>C	GRCh37
NC_000009.10:g.129656408G>C	NCBI36
NG_009551.1:g.5461C>G , LRG_589:g.5461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.48C>G MANE Select	ENSP00000362299.4:p.Ser16Arg
ENST00000344849.4:c.48C>G	ENSP00000341917.3:p.Ser16Arg
ENST00000373203.8:c.48C>G	ENSP00000362299.4:p.Ser16Arg
NM_000118.3:c.48C>G , LRG_589t1:c.48C>G	NP_000109.1:p.Ser16Arg
NM_001114753.2:c.48C>G , LRG_589t2:c.48C>G	NP_001108225.1:p.Ser16Arg
NM_001114753.3:c.48C>G MANE Select	NP_001108225.1:p.Ser16Arg