Canonical Allele Identifier: CA2168293

Gene: CHRND

Linked Data

• ClinVar Variation Id: 286380
• ClinVar RCV Id: RCV000360639 ; RCV000764382 ; RCV001855172
• dbSNP Id: rs563035306
• ExAC: 2:233398813 G / A
• gnomAD v2: 2-233398813-G-A
• gnomAD v3: 2-232534103-G-A
• gnomAD v4: 2-232534103-G-A
• COSMIC: COSM3695338
• MyVariant Identifiers: chr2:g.233398813G>A (hg19) ; chr2:g.232534103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534103G>A , CM000664.2:g.232534103G>A	GRCh38
NC_000002.11:g.233398813G>A , CM000664.1:g.233398813G>A	GRCh37
NC_000002.10:g.233107057G>A	NCBI36
NG_008028.1:g.12892G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1220G>A MANE Select	ENSP00000258385.3:p.Arg407Gln
ENST00000258385.7:c.1220G>A	ENSP00000258385.3:p.Arg407Gln
ENST00000441621.6:c.*402G>A	ENSP00000408819.2:n.*402G>A
ENST00000446616.1:c.*861G>A	ENSP00000410801.1:n.*861G>A
ENST00000543200.5:c.1175G>A	ENSP00000438380.1:p.Arg392Gln
NM_000751.2:c.1220G>A	NP_000742.1:p.Arg407Gln
NM_001256657.1:c.1175G>A	NP_001243586.1:p.Arg392Gln
NM_001311195.1:c.638G>A	NP_001298124.1:p.Arg213Gln
NM_001311196.1:c.917G>A	NP_001298125.1:p.Arg306Gln
NR_046333.1:c.-4294966331G>A
NR_046334.1:c.-4294966052G>A
XM_011510524.1:c.839G>A	XP_011508826.1:p.Arg280Gln
XM_011510524.2:c.839G>A	XP_011508826.1:p.Arg280Gln
NM_000751.3:c.1220G>A MANE Select	NP_000742.1:p.Arg407Gln
NM_001311195.2:c.638G>A	NP_001298124.1:p.Arg213Gln
NM_001311196.2:c.917G>A	NP_001298125.1:p.Arg306Gln
NM_001256657.2:c.1175G>A	NP_001243586.1:p.Arg392Gln