Canonical Allele Identifier: CA200909

Gene: CHRND

Linked Data

• ClinVar Variation Id: 194006
• ClinVar RCV Id: RCV000174260 ; RCV000530315 ; RCV001142919 ; RCV001657944 ; RCV003891709
• dbSNP Id: rs148939701
• ExAC: 2:233399868 G / A
• gnomAD v2: 2-233399868-G-A
• gnomAD v3: 2-232535158-G-A
• gnomAD v4: 2-232535158-G-A
• MyVariant Identifiers: chr2:g.233399868G>A (hg19) ; chr2:g.232535158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535158G>A , CM000664.2:g.232535158G>A	GRCh38
NC_000002.11:g.233399868G>A , CM000664.1:g.233399868G>A	GRCh37
NC_000002.10:g.233108112G>A	NCBI36
NG_008028.1:g.13947G>A
NG_012954.1:g.432G>A
NG_012954.2:g.467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1400G>A MANE Select	ENSP00000258385.3:p.Arg467His
ENST00000258385.7:c.1400G>A	ENSP00000258385.3:p.Arg467His
ENST00000441621.6:c.*582G>A	ENSP00000408819.2:n.*582G>A
ENST00000446616.1:c.*1041G>A	ENSP00000410801.1:n.*1041G>A
ENST00000543200.5:c.1355G>A	ENSP00000438380.1:p.Arg452His
NM_000751.2:c.1400G>A	NP_000742.1:p.Arg467His
NM_001256657.1:c.1355G>A	NP_001243586.1:p.Arg452His
NM_001311195.1:c.818G>A	NP_001298124.1:p.Arg273His
NM_001311196.1:c.1097G>A	NP_001298125.1:p.Arg366His
NR_046333.1:c.-4294966151G>A
NR_046334.1:c.-4294965872G>A
XM_011510524.1:c.1019G>A	XP_011508826.1:p.Arg340His
XM_011510524.2:c.1019G>A	XP_011508826.1:p.Arg340His
NM_000751.3:c.1400G>A MANE Select	NP_000742.1:p.Arg467His
NM_001311195.2:c.818G>A	NP_001298124.1:p.Arg273His
NM_001311196.2:c.1097G>A	NP_001298125.1:p.Arg366His
NM_001256657.2:c.1355G>A	NP_001243586.1:p.Arg452His