Canonical Allele Identifier: CA308741024

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 1102197
• ClinVar RCV Id: RCV001425413
• dbSNP Id: rs901230825
• gnomAD v2: 19-44012211-C-T
• gnomAD v3: 19-43508059-C-T
• gnomAD v4: 19-43508059-C-T
• MyVariant Identifiers: chr19:g.44012211C>T (hg19) ; chr19:g.43508059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508059C>T , CM000681.2:g.43508059C>T	GRCh38
NC_000019.9:g.44012211C>T , CM000681.1:g.44012211C>T	GRCh37
NC_000019.8:g.48704051C>T	NCBI36
NG_008141.1:g.24186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.597G>A MANE Select	ENSP00000292147.1:p.Gly199=
ENST00000292147.6:c.597G>A	ENSP00000292147.1:p.Gly199=
ENST00000594342.5:c.*160G>A	ENSP00000469652.1:n.*160G>A
ENST00000598330.1:c.*160G>A	ENSP00000469219.1:n.*160G>A
ENST00000600651.5:c.597G>A	ENSP00000469037.1:p.Gly199=
NM_014297.3:c.597G>A	NP_055112.2:p.Gly199=
XM_005258687.2:c.516G>A	XP_005258744.1:p.Gly172=
XM_005258688.2:c.228G>A	XP_005258745.1:p.Gly76=
XM_011526685.1:c.318G>A	XP_011524987.1:p.Gly106=
NM_001320867.1:c.564G>A	NP_001307796.1:p.Gly188=
NM_001320868.1:c.228G>A	NP_001307797.1:p.Gly76=
NM_001320869.1:c.303G>A	NP_001307798.1:p.Gly101=
NM_014297.4:c.597G>A	NP_055112.2:p.Gly199=
XM_005258687.4:c.516G>A	XP_005258744.1:p.Gly172=
NM_014297.5:c.597G>A MANE Select	NP_055112.2:p.Gly199=
NM_001320867.2:c.564G>A	NP_001307796.1:p.Gly188=
NM_001320868.2:c.228G>A	NP_001307797.1:p.Gly76=
NM_001320869.2:c.303G>A	NP_001307798.1:p.Gly101=