Canonical Allele Identifier: CA115479

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 2317
• ClinVar RCV Id: RCV000002407
• dbSNP Id: rs28940289
• ExAC: 19:44015607 G / A
• gnomAD v2: 19-44015607-G-A
• gnomAD v3: 19-43511455-G-A
• gnomAD v4: 19-43511455-G-A
• MyVariant Identifiers: chr19:g.44015607G>A (hg19) ; chr19:g.43511455G>A (hg38)
• ERepo: CA115479/MONDO:0011229/014
• PubMed: PMID:14732903 ; PMID:28933811

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511455G>A , CM000681.2:g.43511455G>A	GRCh38
NC_000019.9:g.44015607G>A , CM000681.1:g.44015607G>A	GRCh37
NC_000019.8:g.48707447G>A	NCBI36
NG_008141.1:g.20790C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.487C>T MANE Select	ENSP00000292147.1:p.Arg163Trp
ENST00000292147.6:c.487C>T	ENSP00000292147.1:p.Arg163Trp
ENST00000594342.5:c.*50C>T	ENSP00000469652.1:n.*50C>T
ENST00000598330.1:c.*50C>T	ENSP00000469219.1:n.*50C>T
ENST00000600651.5:c.487C>T	ENSP00000469037.1:p.Arg163Trp
NM_014297.3:c.487C>T	NP_055112.2:p.Arg163Trp
XM_005258687.2:c.406C>T	XP_005258744.1:p.Arg136Trp
XM_005258688.2:c.118C>T	XP_005258745.1:p.Arg40Trp
XM_011526685.1:c.227-2591C>T	XP_011524987.1:n.227-2591C>T
NM_001320867.1:c.454C>T	NP_001307796.1:p.Arg152Trp
NM_001320868.1:c.118C>T	NP_001307797.1:p.Arg40Trp
NM_001320869.1:c.193C>T	NP_001307798.1:p.Arg65Trp
NM_014297.4:c.487C>T	NP_055112.2:p.Arg163Trp
XM_005258687.4:c.406C>T	XP_005258744.1:p.Arg136Trp
NM_014297.5:c.487C>T MANE Select	NP_055112.2:p.Arg163Trp
NM_001320867.2:c.454C>T	NP_001307796.1:p.Arg152Trp
NM_001320868.2:c.118C>T	NP_001307797.1:p.Arg40Trp
NM_001320869.2:c.193C>T	NP_001307798.1:p.Arg65Trp