Canonical Allele Identifier: CA338066829
Gene: CHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3067854
ClinVar RCV Id: RCV003993542
COSMIC: COSM3400927 COSM4782039
MyVariant Identifiers: chr1:g.6172293T>G (hg19) chr1:g.6112233T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112233T>G , CM000663.2:g.6112233T>G GRCh38
NC_000001.10:g.6172293T>G , CM000663.1:g.6172293T>G GRCh37
NC_000001.9:g.6094880T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5047A>C MANE Select ENSP00000262450.3:p.Asn1683His
ENST00000262450.7:c.5047A>C ENSP00000262450.3:p.Asn1683His
ENST00000377999.5:c.1950A>C ENSP00000367238.2:n.1950A>C
ENST00000462991.5:c.3300A>C
ENST00000496404.1:c.3765A>C ENSP00000433676.1:n.3765A>C
NM_015557.2:c.5047A>C NP_056372.1:p.Asn1683His
NM_015557.3:c.5047A>C MANE Select NP_056372.1:p.Asn1683His
Search 100 bp 5'
Search 100 bp 3'