Canonical Allele Identifier: CA308753663

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 2887689
• ClinVar RCV Id: RCV003602914
• dbSNP Id: rs370880966
• gnomAD v2: 19-44030503-T-C
• gnomAD v4: 19-43526351-T-C
• MyVariant Identifiers: chr19:g.44030503T>C (hg19) ; chr19:g.43526351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526351T>C , CM000681.2:g.43526351T>C	GRCh38
NC_000019.9:g.44030503T>C , CM000681.1:g.44030503T>C	GRCh37
NC_000019.8:g.48722343T>C	NCBI36
NG_008141.1:g.5894A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.227-2A>G (ETHE1) MANE Select	ENSP00000292147.1:n.227-2A>G
ENST00000292147.6:c.227-2A>G (ETHE1)	ENSP00000292147.1:n.227-2A>G
ENST00000458714.2:c.-65-76T>C (ZNF575)	ENSP00000413956.2:n.-65-76T>C
ENST00000594342.5:c.226+164A>G (ETHE1)	ENSP00000469652.1:n.226+164A>G
ENST00000595115.1:n.443A>G (ETHE1)
ENST00000598330.1:c.226+164A>G (ETHE1)	ENSP00000469219.1:n.226+164A>G
ENST00000600651.5:c.227-2A>G (ETHE1)	ENSP00000469037.1:n.227-2A>G
ENST00000602138.1:c.*231-2A>G (ETHE1)	ENSP00000468964.1:n.*231-2A>G
NM_014297.3:c.227-2A>G (ETHE1)	NP_055112.2:n.227-2A>G
XM_005258687.2:c.146-2A>G (ETHE1)	XP_005258744.1:n.146-2A>G
XM_005258688.2:c.6+164A>G (ETHE1)	XP_005258745.1:n.6+164A>G
XM_011526685.1:c.226+164A>G (ETHE1)	XP_011524987.1:n.226+164A>G
NM_001320867.1:c.227-35A>G (ETHE1)	NP_001307796.1:n.227-35A>G
NM_001320868.1:c.6+164A>G (ETHE1)	NP_001307797.1:n.6+164A>G
NM_001320869.1:c.81+746A>G (ETHE1)	NP_001307798.1:n.81+746A>G
NM_014297.4:c.227-2A>G (ETHE1)	NP_055112.2:n.227-2A>G
XM_005258687.4:c.146-2A>G (ETHE1)	XP_005258744.1:n.146-2A>G
NM_014297.5:c.227-2A>G (ETHE1) MANE Select	NP_055112.2:n.227-2A>G
NM_001320867.2:c.227-35A>G (ETHE1)	NP_001307796.1:n.227-35A>G
NM_001320868.2:c.6+164A>G (ETHE1)	NP_001307797.1:n.6+164A>G
NM_001320869.2:c.81+746A>G (ETHE1)	NP_001307798.1:n.81+746A>G