Canonical Allele Identifier: CA351005290
Gene: CHRND HGNC NCBI

Linked Data

dbSNP Id: rs1297294887

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534106A>C , CM000664.2:g.232534106A>C GRCh38
NC_000002.11:g.233398816A>C , CM000664.1:g.233398816A>C GRCh37
NC_000002.10:g.233107060A>C NCBI36
NG_008028.1:g.12895A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1223A>C MANE Select ENSP00000258385.3:p.His408Pro
ENST00000258385.7:c.1223A>C ENSP00000258385.3:p.His408Pro
ENST00000441621.6:c.*405A>C ENSP00000408819.2:n.*405A>C
ENST00000446616.1:c.*864A>C ENSP00000410801.1:n.*864A>C
ENST00000543200.5:c.1178A>C ENSP00000438380.1:p.His393Pro
NM_000751.2:c.1223A>C NP_000742.1:p.His408Pro
NM_001256657.1:c.1178A>C NP_001243586.1:p.His393Pro
NM_001311195.1:c.641A>C NP_001298124.1:p.His214Pro
NM_001311196.1:c.920A>C NP_001298125.1:p.His307Pro
NR_046333.1:c.-4294966328A>C
NR_046334.1:c.-4294966049A>C
XM_011510524.1:c.842A>C XP_011508826.1:p.His281Pro
XM_011510524.2:c.842A>C XP_011508826.1:p.His281Pro
NM_000751.3:c.1223A>C MANE Select NP_000742.1:p.His408Pro
NM_001311195.2:c.641A>C NP_001298124.1:p.His214Pro
NM_001311196.2:c.920A>C NP_001298125.1:p.His307Pro
NM_001256657.2:c.1178A>C NP_001243586.1:p.His393Pro