Canonical Allele Identifier: CA323913

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 214318
• ClinVar RCV Id: RCV000199378 ; RCV001248482 ; RCV002515394
• dbSNP Id: rs143319354
• ExAC: 19:44030388 T / A
• gnomAD v2: 19-44030388-T-A
• gnomAD v3: 19-43526236-T-A
• gnomAD v4: 19-43526236-T-A
• MyVariant Identifiers: chr19:g.44030388T>A (hg19) ; chr19:g.43526236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526236T>A , CM000681.2:g.43526236T>A	GRCh38
NC_000019.9:g.44030388T>A , CM000681.1:g.44030388T>A	GRCh37
NC_000019.8:g.48722228T>A	NCBI36
NG_008141.1:g.6009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.340A>T (ETHE1) MANE Select	ENSP00000292147.1:p.Ile114Phe
ENST00000292147.6:c.340A>T (ETHE1)	ENSP00000292147.1:p.Ile114Phe
ENST00000458714.2:c.-68T>A (ZNF575)	ENSP00000413956.2:n.-68T>A
ENST00000594342.5:c.226+279A>T (ETHE1)	ENSP00000469652.1:n.226+279A>T
ENST00000595115.1:n.558A>T (ETHE1)
ENST00000598330.1:c.226+279A>T (ETHE1)	ENSP00000469219.1:n.226+279A>T
ENST00000600651.5:c.340A>T (ETHE1)	ENSP00000469037.1:p.Ile114Phe
ENST00000602138.1:c.*344A>T (ETHE1)	ENSP00000468964.1:n.*344A>T
NM_014297.3:c.340A>T (ETHE1)	NP_055112.2:p.Ile114Phe
XM_005258687.2:c.259A>T (ETHE1)	XP_005258744.1:p.Ile87Phe
XM_005258688.2:c.6+279A>T (ETHE1)	XP_005258745.1:n.6+279A>T
XM_011526685.1:c.226+279A>T (ETHE1)	XP_011524987.1:n.226+279A>T
NM_001320867.1:c.307A>T (ETHE1)	NP_001307796.1:p.Ile103Phe
NM_001320868.1:c.6+279A>T (ETHE1)	NP_001307797.1:n.6+279A>T
NM_001320869.1:c.81+861A>T (ETHE1)	NP_001307798.1:n.81+861A>T
NM_014297.4:c.340A>T (ETHE1)	NP_055112.2:p.Ile114Phe
XM_005258687.4:c.259A>T (ETHE1)	XP_005258744.1:p.Ile87Phe
NM_014297.5:c.340A>T (ETHE1) MANE Select	NP_055112.2:p.Ile114Phe
NM_001320867.2:c.307A>T (ETHE1)	NP_001307796.1:p.Ile103Phe
NM_001320868.2:c.6+279A>T (ETHE1)	NP_001307797.1:n.6+279A>T
NM_001320869.2:c.81+861A>T (ETHE1)	NP_001307798.1:n.81+861A>T