Canonical Allele Identifier: CA406174979

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 2756882
• ClinVar RCV Id: RCV003498510
• MyVariant Identifiers: chr19:g.44012164A>C (hg19) ; chr19:g.43508012A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508012A>C , CM000681.2:g.43508012A>C	GRCh38
NC_000019.9:g.44012164A>C , CM000681.1:g.44012164A>C	GRCh37
NC_000019.8:g.48704004A>C	NCBI36
NG_008141.1:g.24233T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.644T>G MANE Select	ENSP00000292147.1:p.Leu215Arg
ENST00000292147.6:c.644T>G	ENSP00000292147.1:p.Leu215Arg
ENST00000594342.5:c.*207T>G	ENSP00000469652.1:n.*207T>G
ENST00000598330.1:c.*207T>G	ENSP00000469219.1:n.*207T>G
ENST00000600651.5:c.644T>G	ENSP00000469037.1:p.Leu215Arg
NM_014297.3:c.644T>G	NP_055112.2:p.Leu215Arg
XM_005258687.2:c.563T>G	XP_005258744.1:p.Leu188Arg
XM_005258688.2:c.275T>G	XP_005258745.1:p.Leu92Arg
XM_011526685.1:c.365T>G	XP_011524987.1:p.Leu122Arg
NM_001320867.1:c.611T>G	NP_001307796.1:p.Leu204Arg
NM_001320868.1:c.275T>G	NP_001307797.1:p.Leu92Arg
NM_001320869.1:c.350T>G	NP_001307798.1:p.Leu117Arg
NM_014297.4:c.644T>G	NP_055112.2:p.Leu215Arg
XM_005258687.4:c.563T>G	XP_005258744.1:p.Leu188Arg
NM_014297.5:c.644T>G MANE Select	NP_055112.2:p.Leu215Arg
NM_001320867.2:c.611T>G	NP_001307796.1:p.Leu204Arg
NM_001320868.2:c.275T>G	NP_001307797.1:p.Leu92Arg
NM_001320869.2:c.350T>G	NP_001307798.1:p.Leu117Arg