Canonical Allele Identifier: CA406175433

Gene: ETHE1

Linked Data

• ClinVar Variation Id: 430736
• ClinVar RCV Id: RCV000495931
• dbSNP Id: rs935855792
• MyVariant Identifiers: chr19:g.44015588C>G (hg19) ; chr19:g.43511436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511436C>G , CM000681.2:g.43511436C>G	GRCh38
NC_000019.9:g.44015588C>G , CM000681.1:g.44015588C>G	GRCh37
NC_000019.8:g.48707428C>G	NCBI36
NG_008141.1:g.20809G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.505+1G>C MANE Select	ENSP00000292147.1:n.505+1G>C
ENST00000292147.6:c.505+1G>C	ENSP00000292147.1:n.505+1G>C
ENST00000594342.5:c.*68+1G>C	ENSP00000469652.1:n.*68+1G>C
ENST00000598330.1:c.*68+1G>C	ENSP00000469219.1:n.*68+1G>C
ENST00000600651.5:c.505+1G>C	ENSP00000469037.1:n.505+1G>C
NM_014297.3:c.505+1G>C	NP_055112.2:n.505+1G>C
XM_005258687.2:c.424+1G>C	XP_005258744.1:n.424+1G>C
XM_005258688.2:c.136+1G>C	XP_005258745.1:n.136+1G>C
XM_011526685.1:c.227-2572G>C	XP_011524987.1:n.227-2572G>C
NM_001320867.1:c.472+1G>C	NP_001307796.1:n.472+1G>C
NM_001320868.1:c.136+1G>C	NP_001307797.1:n.136+1G>C
NM_001320869.1:c.211+1G>C	NP_001307798.1:n.211+1G>C
NM_014297.4:c.505+1G>C	NP_055112.2:n.505+1G>C
XM_005258687.4:c.424+1G>C	XP_005258744.1:n.424+1G>C
NM_014297.5:c.505+1G>C MANE Select	NP_055112.2:n.505+1G>C
NM_001320867.2:c.472+1G>C	NP_001307796.1:n.472+1G>C
NM_001320868.2:c.136+1G>C	NP_001307797.1:n.136+1G>C
NM_001320869.2:c.211+1G>C	NP_001307798.1:n.211+1G>C