Canonical Allele Identifier: CA351005433

Gene: CHRND

Linked Data

• dbSNP Id: rs1691811061
• gnomAD v4: 2-232534230-C-T
• MyVariant Identifiers: chr2:g.233398940C>T (hg19) ; chr2:g.232534230C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1259C>T MANE Select	ENSP00000258385.3:p.Pro420Leu
ENST00000258385.7:c.1259C>T	ENSP00000258385.3:p.Pro420Leu
ENST00000441621.6:c.*441C>T	ENSP00000408819.2:n.*441C>T
ENST00000446616.1:c.*900C>T	ENSP00000410801.1:n.*900C>T
ENST00000543200.5:c.1214C>T	ENSP00000438380.1:p.Pro405Leu
NM_000751.2:c.1259C>T	NP_000742.1:p.Pro420Leu
NM_001256657.1:c.1214C>T	NP_001243586.1:p.Pro405Leu
NM_001311195.1:c.677C>T	NP_001298124.1:p.Pro226Leu
NM_001311196.1:c.956C>T	NP_001298125.1:p.Pro319Leu
NR_046333.1:c.-4294966292C>T
NR_046334.1:c.-4294966013C>T
XM_011510524.1:c.878C>T	XP_011508826.1:p.Pro293Leu
XM_011510524.2:c.878C>T	XP_011508826.1:p.Pro293Leu
NM_000751.3:c.1259C>T MANE Select	NP_000742.1:p.Pro420Leu
NM_001311195.2:c.677C>T	NP_001298124.1:p.Pro226Leu
NM_001311196.2:c.956C>T	NP_001298125.1:p.Pro319Leu
NM_001256657.2:c.1214C>T	NP_001243586.1:p.Pro405Leu