Canonical Allele Identifier: CA321295

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 214320
• ClinVar RCV Id: RCV001377167
• dbSNP Id: rs863223954
• gnomAD v2: 19-44012214-T-C
• gnomAD v3: 19-43508062-T-C
• gnomAD v4: 19-43508062-T-C
• MyVariant Identifiers: chr19:g.44012214T>C (hg19) ; chr19:g.43508062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508062T>C , CM000681.2:g.43508062T>C	GRCh38
NC_000019.9:g.44012214T>C , CM000681.1:g.44012214T>C	GRCh37
NC_000019.8:g.48704054T>C	NCBI36
NG_008141.1:g.24183A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.596-2A>G MANE Select	ENSP00000292147.1:n.596-2A>G
ENST00000292147.6:c.596-2A>G	ENSP00000292147.1:n.596-2A>G
ENST00000594342.5:c.*159-2A>G	ENSP00000469652.1:n.*159-2A>G
ENST00000598330.1:c.*159-2A>G	ENSP00000469219.1:n.*159-2A>G
ENST00000600651.5:c.596-2A>G	ENSP00000469037.1:n.596-2A>G
NM_014297.3:c.596-2A>G	NP_055112.2:n.596-2A>G
XM_005258687.2:c.515-2A>G	XP_005258744.1:n.515-2A>G
XM_005258688.2:c.227-2A>G	XP_005258745.1:n.227-2A>G
XM_011526685.1:c.317-2A>G	XP_011524987.1:n.317-2A>G
NM_001320867.1:c.563-2A>G	NP_001307796.1:n.563-2A>G
NM_001320868.1:c.227-2A>G	NP_001307797.1:n.227-2A>G
NM_001320869.1:c.302-2A>G	NP_001307798.1:n.302-2A>G
NM_014297.4:c.596-2A>G	NP_055112.2:n.596-2A>G
XM_005258687.4:c.515-2A>G	XP_005258744.1:n.515-2A>G
NM_014297.5:c.596-2A>G MANE Select	NP_055112.2:n.596-2A>G
NM_001320867.2:c.563-2A>G	NP_001307796.1:n.563-2A>G
NM_001320868.2:c.227-2A>G	NP_001307797.1:n.227-2A>G
NM_001320869.2:c.302-2A>G	NP_001307798.1:n.302-2A>G