Canonical Allele Identifier: CA406174839

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 2864753
• ClinVar RCV Id: RCV003602593
• MyVariant Identifiers: chr19:g.44012102G>A (hg19) ; chr19:g.43507950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43507950G>A , CM000681.2:g.43507950G>A	GRCh38
NC_000019.9:g.44012102G>A , CM000681.1:g.44012102G>A	GRCh37
NC_000019.8:g.48703942G>A	NCBI36
NG_008141.1:g.24295C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.706C>T MANE Select	ENSP00000292147.1:p.Gln236Ter
ENST00000292147.6:c.706C>T	ENSP00000292147.1:p.Gln236Ter
ENST00000594342.5:c.*269C>T	ENSP00000469652.1:n.*269C>T
ENST00000598330.1:c.*269C>T	ENSP00000469219.1:n.*269C>T
ENST00000600651.5:c.706C>T	ENSP00000469037.1:p.Gln236Ter
NM_014297.3:c.706C>T	NP_055112.2:p.Gln236Ter
XM_005258687.2:c.625C>T	XP_005258744.1:p.Gln209Ter
XM_005258688.2:c.337C>T	XP_005258745.1:p.Gln113Ter
XM_011526685.1:c.427C>T	XP_011524987.1:p.Gln143Ter
NM_001320867.1:c.673C>T	NP_001307796.1:p.Gln225Ter
NM_001320868.1:c.337C>T	NP_001307797.1:p.Gln113Ter
NM_001320869.1:c.412C>T	NP_001307798.1:p.Gln138Ter
NM_014297.4:c.706C>T	NP_055112.2:p.Gln236Ter
XM_005258687.4:c.625C>T	XP_005258744.1:p.Gln209Ter
NM_014297.5:c.706C>T MANE Select	NP_055112.2:p.Gln236Ter
NM_001320867.2:c.673C>T	NP_001307796.1:p.Gln225Ter
NM_001320868.2:c.337C>T	NP_001307797.1:p.Gln113Ter
NM_001320869.2:c.412C>T	NP_001307798.1:p.Gln138Ter