Canonical Allele Identifier: CA9487908

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 1687641
• ClinVar RCV Id: RCV002251615
• dbSNP Id: rs745576162
• ExAC: 19:44030501 A / G
• gnomAD v2: 19-44030501-A-G
• gnomAD v3: 19-43526349-A-G
• gnomAD v4: 19-43526349-A-G
• MyVariant Identifiers: chr19:g.44030501A>G (hg19) ; chr19:g.43526349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526349A>G , CM000681.2:g.43526349A>G	GRCh38
NC_000019.9:g.44030501A>G , CM000681.1:g.44030501A>G	GRCh37
NC_000019.8:g.48722341A>G	NCBI36
NG_008141.1:g.5896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.227T>C (ETHE1) MANE Select	ENSP00000292147.1:p.Val76Ala
ENST00000292147.6:c.227T>C (ETHE1)	ENSP00000292147.1:p.Val76Ala
ENST00000458714.2:c.-65-78A>G (ZNF575)	ENSP00000413956.2:n.-65-78A>G
ENST00000594342.5:c.226+166T>C (ETHE1)	ENSP00000469652.1:n.226+166T>C
ENST00000595115.1:n.445T>C (ETHE1)
ENST00000598330.1:c.226+166T>C (ETHE1)	ENSP00000469219.1:n.226+166T>C
ENST00000600651.5:c.227T>C (ETHE1)	ENSP00000469037.1:p.Val76Ala
ENST00000602138.1:c.*231T>C (ETHE1)	ENSP00000468964.1:n.*231T>C
NM_014297.3:c.227T>C (ETHE1)	NP_055112.2:p.Val76Ala
XM_005258687.2:c.146T>C (ETHE1)	XP_005258744.1:p.Val49Ala
XM_005258688.2:c.6+166T>C (ETHE1)	XP_005258745.1:n.6+166T>C
XM_011526685.1:c.226+166T>C (ETHE1)	XP_011524987.1:n.226+166T>C
NM_001320867.1:c.227-33T>C (ETHE1)	NP_001307796.1:n.227-33T>C
NM_001320868.1:c.6+166T>C (ETHE1)	NP_001307797.1:n.6+166T>C
NM_001320869.1:c.81+748T>C (ETHE1)	NP_001307798.1:n.81+748T>C
NM_014297.4:c.227T>C (ETHE1)	NP_055112.2:p.Val76Ala
XM_005258687.4:c.146T>C (ETHE1)	XP_005258744.1:p.Val49Ala
NM_014297.5:c.227T>C (ETHE1) MANE Select	NP_055112.2:p.Val76Ala
NM_001320867.2:c.227-33T>C (ETHE1)	NP_001307796.1:n.227-33T>C
NM_001320868.2:c.6+166T>C (ETHE1)	NP_001307797.1:n.6+166T>C
NM_001320869.2:c.81+748T>C (ETHE1)	NP_001307798.1:n.81+748T>C