Canonical Allele Identifier: CA2168411
Gene: CHRND HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535461A>G , CM000664.2:g.232535461A>G GRCh38
NC_000002.11:g.233400171A>G , CM000664.1:g.233400171A>G GRCh37
NC_000002.10:g.233108415A>G NCBI36
NG_008028.1:g.14250A>G
NG_012954.1:g.735A>G
NG_012954.2:g.770A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.*149A>G MANE Select ENSP00000258385.3:n.*149A>G
ENST00000258385.7:c.*149A>G ENSP00000258385.3:n.*149A>G
ENST00000441621.6:c.*885A>G ENSP00000408819.2:n.*885A>G
ENST00000543200.5:c.*149A>G ENSP00000438380.1:n.*149A>G
NM_000751.2:c.*149A>G NP_000742.1:n.*149A>G
NM_001256657.1:c.*149A>G NP_001243586.1:n.*149A>G
NM_001311195.1:c.*149A>G NP_001298124.1:n.*149A>G
NM_001311196.1:c.*149A>G NP_001298125.1:n.*149A>G
NR_046333.1:c.-4294965848A>G
NR_046334.1:c.-4294965569A>G
XM_011510524.1:c.*149A>G XP_011508826.1:n.*149A>G
XM_011510524.2:c.*149A>G XP_011508826.1:n.*149A>G
NM_000751.3:c.*149A>G MANE Select NP_000742.1:n.*149A>G
NM_001311195.2:c.*149A>G NP_001298124.1:n.*149A>G
NM_001311196.2:c.*149A>G NP_001298125.1:n.*149A>G
NM_001256657.2:c.*149A>G NP_001243586.1:n.*149A>G