Canonical Allele Identifier: CA406175649

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 496426
• ClinVar RCV Id: RCV000587866
• dbSNP Id: rs1284200516
• gnomAD v2: 19-44015688-T-C
• gnomAD v4: 19-43511536-T-C
• MyVariant Identifiers: chr19:g.44015688T>C (hg19) ; chr19:g.43511536T>C (hg38)
• PubMed: PMID:14732903 ; PMID:16183799 ; PMID:16828325 ; PMID:18593870 ; PMID:28933811

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511536T>C , CM000681.2:g.43511536T>C	GRCh38
NC_000019.9:g.44015688T>C , CM000681.1:g.44015688T>C	GRCh37
NC_000019.8:g.48707528T>C	NCBI36
NG_008141.1:g.20709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.406A>G MANE Select	ENSP00000292147.1:p.Thr136Ala
ENST00000292147.6:c.406A>G	ENSP00000292147.1:p.Thr136Ala
ENST00000594342.5:c.257A>G	ENSP00000469652.1:p.His86Arg
ENST00000598330.1:c.257A>G	ENSP00000469219.1:p.His86Arg
ENST00000600651.5:c.406A>G	ENSP00000469037.1:p.Thr136Ala
ENST00000602138.1:c.*410A>G	ENSP00000468964.1:n.*410A>G
NM_014297.3:c.406A>G	NP_055112.2:p.Thr136Ala
XM_005258687.2:c.325A>G	XP_005258744.1:p.Thr109Ala
XM_005258688.2:c.37A>G	XP_005258745.1:p.Thr13Ala
XM_011526685.1:c.227-2672A>G	XP_011524987.1:n.227-2672A>G
NM_001320867.1:c.373A>G	NP_001307796.1:p.Thr125Ala
NM_001320868.1:c.37A>G	NP_001307797.1:p.Thr13Ala
NM_001320869.1:c.112A>G	NP_001307798.1:p.Thr38Ala
NM_014297.4:c.406A>G	NP_055112.2:p.Thr136Ala
XM_005258687.4:c.325A>G	XP_005258744.1:p.Thr109Ala
NM_014297.5:c.406A>G MANE Select	NP_055112.2:p.Thr136Ala
NM_001320867.2:c.373A>G	NP_001307796.1:p.Thr125Ala
NM_001320868.2:c.37A>G	NP_001307797.1:p.Thr13Ala
NM_001320869.2:c.112A>G	NP_001307798.1:p.Thr38Ala