Canonical Allele Identifier: CA406175081

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 1936675
• ClinVar RCV Id: RCV002658079
• dbSNP Id: rs1487930609
• gnomAD v2: 19-44012213-C-T
• gnomAD v4: 19-43508061-C-T
• MyVariant Identifiers: chr19:g.44012213C>T (hg19) ; chr19:g.43508061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508061C>T , CM000681.2:g.43508061C>T	GRCh38
NC_000019.9:g.44012213C>T , CM000681.1:g.44012213C>T	GRCh37
NC_000019.8:g.48704053C>T	NCBI36
NG_008141.1:g.24184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.596-1G>A MANE Select	ENSP00000292147.1:n.596-1G>A
ENST00000292147.6:c.596-1G>A	ENSP00000292147.1:n.596-1G>A
ENST00000594342.5:c.*159-1G>A	ENSP00000469652.1:n.*159-1G>A
ENST00000598330.1:c.*159-1G>A	ENSP00000469219.1:n.*159-1G>A
ENST00000600651.5:c.596-1G>A	ENSP00000469037.1:n.596-1G>A
NM_014297.3:c.596-1G>A	NP_055112.2:n.596-1G>A
XM_005258687.2:c.515-1G>A	XP_005258744.1:n.515-1G>A
XM_005258688.2:c.227-1G>A	XP_005258745.1:n.227-1G>A
XM_011526685.1:c.317-1G>A	XP_011524987.1:n.317-1G>A
NM_001320867.1:c.563-1G>A	NP_001307796.1:n.563-1G>A
NM_001320868.1:c.227-1G>A	NP_001307797.1:n.227-1G>A
NM_001320869.1:c.302-1G>A	NP_001307798.1:n.302-1G>A
NM_014297.4:c.596-1G>A	NP_055112.2:n.596-1G>A
XM_005258687.4:c.515-1G>A	XP_005258744.1:n.515-1G>A
NM_014297.5:c.596-1G>A MANE Select	NP_055112.2:n.596-1G>A
NM_001320867.2:c.563-1G>A	NP_001307796.1:n.563-1G>A
NM_001320868.2:c.227-1G>A	NP_001307797.1:n.227-1G>A
NM_001320869.2:c.302-1G>A	NP_001307798.1:n.302-1G>A