Canonical Allele Identifier: CA351005429

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534230-C-A
• MyVariant Identifiers: chr2:g.233398940C>A (hg19) ; chr2:g.232534230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534230C>A , CM000664.2:g.232534230C>A	GRCh38
NC_000002.11:g.233398940C>A , CM000664.1:g.233398940C>A	GRCh37
NC_000002.10:g.233107184C>A	NCBI36
NG_008028.1:g.13019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1259C>A MANE Select	ENSP00000258385.3:p.Pro420His
ENST00000258385.7:c.1259C>A	ENSP00000258385.3:p.Pro420His
ENST00000441621.6:c.*441C>A	ENSP00000408819.2:n.*441C>A
ENST00000446616.1:c.*900C>A	ENSP00000410801.1:n.*900C>A
ENST00000543200.5:c.1214C>A	ENSP00000438380.1:p.Pro405His
NM_000751.2:c.1259C>A	NP_000742.1:p.Pro420His
NM_001256657.1:c.1214C>A	NP_001243586.1:p.Pro405His
NM_001311195.1:c.677C>A	NP_001298124.1:p.Pro226His
NM_001311196.1:c.956C>A	NP_001298125.1:p.Pro319His
NR_046333.1:c.-4294966292C>A
NR_046334.1:c.-4294966013C>A
XM_011510524.1:c.878C>A	XP_011508826.1:p.Pro293His
XM_011510524.2:c.878C>A	XP_011508826.1:p.Pro293His
NM_000751.3:c.1259C>A MANE Select	NP_000742.1:p.Pro420His
NM_001311195.2:c.677C>A	NP_001298124.1:p.Pro226His
NM_001311196.2:c.956C>A	NP_001298125.1:p.Pro319His
NM_001256657.2:c.1214C>A	NP_001243586.1:p.Pro405His