Canonical Allele Identifier: CA416018466
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs1254857376
gnomAD v2: 1-6172243-C-T
gnomAD v3: 1-6112183-C-T
gnomAD v4: 1-6112183-C-T
COSMIC: COSM3491440 COSM4897401
MyVariant Identifiers: chr1:g.6172243C>T (hg19) chr1:g.6112183C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112183C>T , CM000663.2:g.6112183C>T GRCh38
NC_000001.10:g.6172243C>T , CM000663.1:g.6172243C>T GRCh37
NC_000001.9:g.6094830C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5097G>A MANE Select ENSP00000262450.3:p.Gly1699=
ENST00000262450.7:c.5097G>A ENSP00000262450.3:p.Gly1699=
ENST00000377999.5:c.2000G>A ENSP00000367238.2:n.2000G>A
ENST00000462991.5:c.3350G>A
ENST00000496404.1:c.3815G>A ENSP00000433676.1:n.3815G>A
NM_015557.2:c.5097G>A NP_056372.1:p.Gly1699=
NM_015557.3:c.5097G>A MANE Select NP_056372.1:p.Gly1699=
Search 100 bp 5'
Search 100 bp 3'