Canonical Allele Identifier: CA320215

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 214322
• ClinVar RCV Id: RCV000276936
• dbSNP Id: rs745656120
• ExAC: 19:44015606 C / T
• gnomAD v2: 19-44015606-C-T
• gnomAD v3: 19-43511454-C-T
• gnomAD v4: 19-43511454-C-T
• COSMIC: COSM328892
• MyVariant Identifiers: chr19:g.44015606C>T (hg19) ; chr19:g.43511454C>T (hg38)
• ERepo: CA320215/MONDO:0011229/014
• PubMed: PMID:14732903 ; PMID:16183799 ; PMID:16828325 ; PMID:18593870 ; PMID:22020834 ; PMID:25198162 ; PMID:26194623 ; PMID:27391121 ; PMID:28933811

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511454C>T , CM000681.2:g.43511454C>T	GRCh38
NC_000019.9:g.44015606C>T , CM000681.1:g.44015606C>T	GRCh37
NC_000019.8:g.48707446C>T	NCBI36
NG_008141.1:g.20791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.488G>A MANE Select	ENSP00000292147.1:p.Arg163Gln
ENST00000292147.6:c.488G>A	ENSP00000292147.1:p.Arg163Gln
ENST00000594342.5:c.*51G>A	ENSP00000469652.1:n.*51G>A
ENST00000598330.1:c.*51G>A	ENSP00000469219.1:n.*51G>A
ENST00000600651.5:c.488G>A	ENSP00000469037.1:p.Arg163Gln
NM_014297.3:c.488G>A	NP_055112.2:p.Arg163Gln
XM_005258687.2:c.407G>A	XP_005258744.1:p.Arg136Gln
XM_005258688.2:c.119G>A	XP_005258745.1:p.Arg40Gln
XM_011526685.1:c.227-2590G>A	XP_011524987.1:n.227-2590G>A
NM_001320867.1:c.455G>A	NP_001307796.1:p.Arg152Gln
NM_001320868.1:c.119G>A	NP_001307797.1:p.Arg40Gln
NM_001320869.1:c.194G>A	NP_001307798.1:p.Arg65Gln
NM_014297.4:c.488G>A	NP_055112.2:p.Arg163Gln
XM_005258687.4:c.407G>A	XP_005258744.1:p.Arg136Gln
NM_014297.5:c.488G>A MANE Select	NP_055112.2:p.Arg163Gln
NM_001320867.2:c.455G>A	NP_001307796.1:p.Arg152Gln
NM_001320868.2:c.119G>A	NP_001307797.1:p.Arg40Gln
NM_001320869.2:c.194G>A	NP_001307798.1:p.Arg65Gln