Canonical Allele Identifier: CA115480

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 2318
• ClinVar RCV Id: RCV000002408 ; RCV000197782
• dbSNP Id: rs119103249
• ExAC: 19:44031327 C / A
• gnomAD v2: 19-44031327-C-A
• gnomAD v4: 19-43527175-C-A
• MyVariant Identifiers: chr19:g.44031327C>A (hg19) ; chr19:g.43527175C>A (hg38)
• PubMed: PMID:14732903 ; PMID:28933811

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43527175C>A , CM000681.2:g.43527175C>A	GRCh38
NC_000019.9:g.44031327C>A , CM000681.1:g.44031327C>A	GRCh37
NC_000019.8:g.48723167C>A	NCBI36
NG_008141.1:g.5070G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.3G>T (ETHE1) MANE Select	ENSP00000292147.1:p.Met1Ile
ENST00000292147.6:c.3G>T (ETHE1)	ENSP00000292147.1:p.Met1Ile
ENST00000458714.2:c.135+549C>A (ZNF575)	ENSP00000413956.2:n.135+549C>A
ENST00000594342.5:c.3G>T (ETHE1)	ENSP00000469652.1:p.Met1Ile
ENST00000595115.1:n.56G>T (ETHE1)
ENST00000598330.1:c.3G>T (ETHE1)	ENSP00000469219.1:p.Met1Ile
ENST00000600651.5:c.3G>T (ETHE1)	ENSP00000469037.1:p.Met1Ile
ENST00000602138.1:c.3G>T (ETHE1)	ENSP00000468964.1:p.Met1Ile
NM_014297.3:c.3G>T (ETHE1)	NP_055112.2:p.Met1Ile
XM_005258687.2:c.-239G>T (ETHE1)	XP_005258744.1:n.-239G>T
XM_005258688.2:c.-218G>T (ETHE1)	XP_005258745.1:n.-218G>T
XM_011526685.1:c.3G>T (ETHE1)	XP_011524987.1:p.Met1Ile
NM_001320867.1:c.3G>T (ETHE1)	NP_001307796.1:p.Met1Ile
NM_001320868.1:c.-218G>T (ETHE1)	NP_001307797.1:n.-218G>T
NM_001320869.1:c.3G>T (ETHE1)	NP_001307798.1:p.Met1Ile
NM_014297.4:c.3G>T (ETHE1)	NP_055112.2:p.Met1Ile
XM_005258687.4:c.-239G>T (ETHE1)	XP_005258744.1:n.-239G>T
NM_014297.5:c.3G>T (ETHE1) MANE Select	NP_055112.2:p.Met1Ile
NM_001320867.2:c.3G>T (ETHE1)	NP_001307796.1:p.Met1Ile
NM_001320868.2:c.-218G>T (ETHE1)	NP_001307797.1:n.-218G>T
NM_001320869.2:c.3G>T (ETHE1)	NP_001307798.1:p.Met1Ile