Canonical Allele Identifier: CA2337539403

Gene: ETHE1 ZNF575

Linked Data

• ClinVar Variation Id: 1107688
• ClinVar RCV Id: RCV001432931
• dbSNP Id: rs1245380812
• gnomAD v4: 19-43527090-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43527090C>G , CM000681.2:g.43527090C>G	GRCh38
NC_000019.9:g.44031242C>G , CM000681.1:g.44031242C>G	GRCh37
NC_000019.8:g.48723082C>G	NCBI36
NG_008141.1:g.5155G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.81+7G>C (ETHE1) MANE Select	ENSP00000292147.1:n.81+7G>C
ENST00000292147.6:c.81+7G>C (ETHE1)	ENSP00000292147.1:n.81+7G>C
ENST00000458714.2:c.135+464C>G (ZNF575)	ENSP00000413956.2:n.135+464C>G
ENST00000594342.5:c.81+7G>C (ETHE1)	ENSP00000469652.1:n.81+7G>C
ENST00000595115.1:n.134+7G>C (ETHE1)
ENST00000598330.1:c.81+7G>C (ETHE1)	ENSP00000469219.1:n.81+7G>C
ENST00000600651.5:c.81+7G>C (ETHE1)	ENSP00000469037.1:n.81+7G>C
ENST00000602138.1:c.88G>C (ETHE1)	ENSP00000468964.1:p.Val30Leu
NM_014297.3:c.81+7G>C (ETHE1)	NP_055112.2:n.81+7G>C
XM_005258687.2:c.-154G>C (ETHE1)	XP_005258744.1:n.-154G>C
XM_005258688.2:c.-140+7G>C (ETHE1)	XP_005258745.1:n.-140+7G>C
XM_011526685.1:c.81+7G>C (ETHE1)	XP_011524987.1:n.81+7G>C
NM_001320867.1:c.81+7G>C (ETHE1)	NP_001307796.1:n.81+7G>C
NM_001320868.1:c.-140+7G>C (ETHE1)	NP_001307797.1:n.-140+7G>C
NM_001320869.1:c.81+7G>C (ETHE1)	NP_001307798.1:n.81+7G>C
NM_014297.4:c.81+7G>C (ETHE1)	NP_055112.2:n.81+7G>C
XM_005258687.4:c.-154G>C (ETHE1)	XP_005258744.1:n.-154G>C
NM_014297.5:c.81+7G>C (ETHE1) MANE Select	NP_055112.2:n.81+7G>C
NM_001320867.2:c.81+7G>C (ETHE1)	NP_001307796.1:n.81+7G>C
NM_001320868.2:c.-140+7G>C (ETHE1)	NP_001307797.1:n.-140+7G>C
NM_001320869.2:c.81+7G>C (ETHE1)	NP_001307798.1:n.81+7G>C