Canonical Allele Identifier: CA556932
Gene: CHD5 HGNC NCBI
COSMIC:
COSM3751336 (not active)
MyVariant.info:
GRCh38 chr1:g.6144101G>A
GRCh37 chr1:g.6204161G>A
gnomAD v2:
1:6204161 G / A
gnomAD v3:
1:6144101 G / A
gnomAD v4:
chr1-6144101-G-A
Joint Max Group AF 0.2275798 (MID)
Genomes Max Group AF 0.16002773 (AMR)
Exomes Max Group AF 0.2285867 (MID)
ClinVar RCV:
RCV003979678
ClinVar Variation:
3059081
dbSNP:
17436816
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144101G>A , CM000663.2:g.6144101G>A GRCh38
NC_000001.10:g.6204161G>A , CM000663.1:g.6204161G>A GRCh37
NC_000001.9:g.6126748G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.1857C>T MANE Select ENSP00000262450.3:p.Tyr619=
ENST00000262450.7:c.1857C>T ENSP00000262450.3:p.Tyr619=
ENST00000462991.5:c.4C>T
ENST00000496404.1:c.1857C>T ENSP00000433676.1:p.Tyr619=
NM_015557.2:c.1857C>T NP_056372.1:p.Tyr619=
NM_015557.3:c.1857C>T MANE Select NP_056372.1:p.Tyr619=
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