Canonical Allele Identifier: CA9487903

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 2158879
• ClinVar RCV Id: RCV003093648
• dbSNP Id: rs767381092
• ExAC: 19:44030439 C / G
• gnomAD v2: 19-44030439-C-G
• gnomAD v3: 19-43526287-C-G
• gnomAD v4: 19-43526287-C-G
• MyVariant Identifiers: chr19:g.44030439C>G (hg19) ; chr19:g.43526287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526287C>G , CM000681.2:g.43526287C>G	GRCh38
NC_000019.9:g.44030439C>G , CM000681.1:g.44030439C>G	GRCh37
NC_000019.8:g.48722279C>G	NCBI36
NG_008141.1:g.5958G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.289G>C (ETHE1) MANE Select	ENSP00000292147.1:p.Gly97Arg
ENST00000292147.6:c.289G>C (ETHE1)	ENSP00000292147.1:p.Gly97Arg
ENST00000458714.2:c.-66+49C>G (ZNF575)	ENSP00000413956.2:n.-66+49C>G
ENST00000594342.5:c.226+228G>C (ETHE1)	ENSP00000469652.1:n.226+228G>C
ENST00000595115.1:n.507G>C (ETHE1)
ENST00000598330.1:c.226+228G>C (ETHE1)	ENSP00000469219.1:n.226+228G>C
ENST00000600651.5:c.289G>C (ETHE1)	ENSP00000469037.1:p.Gly97Arg
ENST00000602138.1:c.*293G>C (ETHE1)	ENSP00000468964.1:n.*293G>C
NM_014297.3:c.289G>C (ETHE1)	NP_055112.2:p.Gly97Arg
XM_005258687.2:c.208G>C (ETHE1)	XP_005258744.1:p.Gly70Arg
XM_005258688.2:c.6+228G>C (ETHE1)	XP_005258745.1:n.6+228G>C
XM_011526685.1:c.226+228G>C (ETHE1)	XP_011524987.1:n.226+228G>C
NM_001320867.1:c.256G>C (ETHE1)	NP_001307796.1:p.Gly86Arg
NM_001320868.1:c.6+228G>C (ETHE1)	NP_001307797.1:n.6+228G>C
NM_001320869.1:c.81+810G>C (ETHE1)	NP_001307798.1:n.81+810G>C
NM_014297.4:c.289G>C (ETHE1)	NP_055112.2:p.Gly97Arg
XM_005258687.4:c.208G>C (ETHE1)	XP_005258744.1:p.Gly70Arg
NM_014297.5:c.289G>C (ETHE1) MANE Select	NP_055112.2:p.Gly97Arg
NM_001320867.2:c.256G>C (ETHE1)	NP_001307796.1:p.Gly86Arg
NM_001320868.2:c.6+228G>C (ETHE1)	NP_001307797.1:n.6+228G>C
NM_001320869.2:c.81+810G>C (ETHE1)	NP_001307798.1:n.81+810G>C