Canonical Allele Identifier: CA290778

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 137238
• ClinVar RCV Id: RCV000124923 ; RCV000390869
• dbSNP Id: rs368890798
• ExAC: 19:44031376 G / A
• gnomAD v2: 19-44031376-G-A
• gnomAD v3: 19-43527224-G-A
• gnomAD v4: 19-43527224-G-A
• MyVariant Identifiers: chr19:g.44031376G>A (hg19) ; chr19:g.43527224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43527224G>A , CM000681.2:g.43527224G>A	GRCh38
NC_000019.9:g.44031376G>A , CM000681.1:g.44031376G>A	GRCh37
NC_000019.8:g.48723216G>A	NCBI36
NG_008141.1:g.5021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.6:c.-47C>T (ETHE1)	ENSP00000292147.1:n.-47C>T
ENST00000458714.2:c.135+598G>A (ZNF575)	ENSP00000413956.2:n.135+598G>A
ENST00000595115.1:n.7C>T (ETHE1)
NM_014297.3:c.-47C>T (ETHE1)	NP_055112.2:n.-47C>T
XM_011526685.1:c.-47C>T (ETHE1)	XP_011524987.1:n.-47C>T
NM_001320867.1:c.-47C>T (ETHE1)	NP_001307796.1:n.-47C>T
NM_001320868.1:c.-267C>T (ETHE1)	NP_001307797.1:n.-267C>T
NM_001320869.1:c.-47C>T (ETHE1)	NP_001307798.1:n.-47C>T
NM_014297.4:c.-47C>T (ETHE1)	NP_055112.2:n.-47C>T