Canonical Allele Identifier: CA290779

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 137239
• ClinVar RCV Id: RCV000124924 ; RCV000339697 ; RCV003415931
• dbSNP Id: rs144136377
• ExAC: 19:44031374 C / T
• gnomAD v2: 19-44031374-C-T
• gnomAD v3: 19-43527222-C-T
• gnomAD v4: 19-43527222-C-T
• MyVariant Identifiers: chr19:g.44031374C>T (hg19) ; chr19:g.43527222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43527222C>T , CM000681.2:g.43527222C>T	GRCh38
NC_000019.9:g.44031374C>T , CM000681.1:g.44031374C>T	GRCh37
NC_000019.8:g.48723214C>T	NCBI36
NG_008141.1:g.5023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.6:c.-45G>A (ETHE1)	ENSP00000292147.1:n.-45G>A
ENST00000458714.2:c.135+596C>T (ZNF575)	ENSP00000413956.2:n.135+596C>T
ENST00000595115.1:n.9G>A (ETHE1)
ENST00000598330.1:c.-45G>A (ETHE1)	ENSP00000469219.1:n.-45G>A
NM_014297.3:c.-45G>A (ETHE1)	NP_055112.2:n.-45G>A
XM_011526685.1:c.-45G>A (ETHE1)	XP_011524987.1:n.-45G>A
NM_001320867.1:c.-45G>A (ETHE1)	NP_001307796.1:n.-45G>A
NM_001320868.1:c.-265G>A (ETHE1)	NP_001307797.1:n.-265G>A
NM_001320869.1:c.-45G>A (ETHE1)	NP_001307798.1:n.-45G>A
NM_014297.4:c.-45G>A (ETHE1)	NP_055112.2:n.-45G>A