Canonical Allele Identifier: CA555942
Gene: CHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2600084
ClinVar RCV Id: RCV003347966
dbSNP Id: rs755263508
ExAC: 1:6172337 T / C
gnomAD v2: 1-6172337-T-C
gnomAD v4: 1-6112277-T-C
COSMIC: COSM3977792
MyVariant Identifiers: chr1:g.6172337T>C (hg19) chr1:g.6112277T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112277T>C , CM000663.2:g.6112277T>C GRCh38
NC_000001.10:g.6172337T>C , CM000663.1:g.6172337T>C GRCh37
NC_000001.9:g.6094924T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5003A>G MANE Select ENSP00000262450.3:p.Asp1668Gly
ENST00000262450.7:c.5003A>G ENSP00000262450.3:p.Asp1668Gly
ENST00000377999.5:c.1906A>G ENSP00000367238.2:n.1906A>G
ENST00000462991.5:c.3256A>G
ENST00000496404.1:c.3721A>G ENSP00000433676.1:n.3721A>G
NM_015557.2:c.5003A>G NP_056372.1:p.Asp1668Gly
NM_015557.3:c.5003A>G MANE Select NP_056372.1:p.Asp1668Gly
Search 100 bp 5'
Search 100 bp 3'