Canonical Allele Identifier: CA10658936
Gene:
MyVariant.info:
GRCh38 chr1:g.8923596G>C
GRCh37 chr1:g.8983655G>C
gnomAD v2:
1:8983655 G / C
gnomAD v3:
1:8923596 G / C
gnomAD v4:
chr1-8923596-G-C
Joint Max Group AF 0.46900093 (NFE)
Genomes Max Group AF 0.46900093 (NFE)
dbSNP:
11806366
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8923596G>C , CM000663.2:g.8923596G>C GRCh38
NC_000001.10:g.8983655G>C , CM000663.1:g.8983655G>C GRCh37
NC_000001.9:g.8906242G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_946938.1:n.52+3211C>G
XR_946939.1:n.52+3211C>G
XR_946940.1:n.52+3211C>G
XR_002958527.1:n.518+3211C>G
XR_002958529.1:n.1836+1366C>G
XR_002958530.1:n.547C>G
XR_002958531.1:n.524+3211C>G
XR_002958532.1:n.501+3211C>G
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