Canonical Allele Identifier: CA351005304

Gene: CHRND

Linked Data

• dbSNP Id: rs1318611651
• gnomAD v2: 2-233398824-G-A
• gnomAD v4: 2-232534114-G-A
• MyVariant Identifiers: chr2:g.233398824G>A (hg19) ; chr2:g.232534114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534114G>A , CM000664.2:g.232534114G>A	GRCh38
NC_000002.11:g.233398824G>A , CM000664.1:g.233398824G>A	GRCh37
NC_000002.10:g.233107068G>A	NCBI36
NG_008028.1:g.12903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1231G>A MANE Select	ENSP00000258385.3:p.Ala411Thr
ENST00000258385.7:c.1231G>A	ENSP00000258385.3:p.Ala411Thr
ENST00000441621.6:c.*413G>A	ENSP00000408819.2:n.*413G>A
ENST00000446616.1:c.*872G>A	ENSP00000410801.1:n.*872G>A
ENST00000543200.5:c.1186G>A	ENSP00000438380.1:p.Ala396Thr
NM_000751.2:c.1231G>A	NP_000742.1:p.Ala411Thr
NM_001256657.1:c.1186G>A	NP_001243586.1:p.Ala396Thr
NM_001311195.1:c.649G>A	NP_001298124.1:p.Ala217Thr
NM_001311196.1:c.928G>A	NP_001298125.1:p.Ala310Thr
NR_046333.1:c.-4294966320G>A
NR_046334.1:c.-4294966041G>A
XM_011510524.1:c.850G>A	XP_011508826.1:p.Ala284Thr
XM_011510524.2:c.850G>A	XP_011508826.1:p.Ala284Thr
NM_000751.3:c.1231G>A MANE Select	NP_000742.1:p.Ala411Thr
NM_001311195.2:c.649G>A	NP_001298124.1:p.Ala217Thr
NM_001311196.2:c.928G>A	NP_001298125.1:p.Ala310Thr
NM_001256657.2:c.1186G>A	NP_001243586.1:p.Ala396Thr