Canonical Allele Identifier: CA10870847
Gene: CHD5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.6157799A>G
GRCh37 chr1:g.6217859A>G
gnomAD v2:
1:6217859 A / G
gnomAD v3:
1:6157799 A / G
gnomAD v4:
chr1-6157799-A-G
Joint Max Group AF 0.45264991 (AFR)
Genomes Max Group AF 0.45264991 (AFR)
dbSNP:
9434741
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6157799A>G , CM000663.2:g.6157799A>G GRCh38
NC_000001.10:g.6217859A>G , CM000663.1:g.6217859A>G GRCh37
NC_000001.9:g.6140446A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.387+1537T>C MANE Select ENSP00000262450.3:n.387+1537T>C
ENST00000262450.7:c.387+1537T>C ENSP00000262450.3:n.387+1537T>C
ENST00000496404.1:c.387+1537T>C ENSP00000433676.1:n.387+1537T>C
NM_015557.2:c.387+1537T>C NP_056372.1:n.387+1537T>C
NM_015557.3:c.387+1537T>C MANE Select NP_056372.1:n.387+1537T>C
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