Canonical Allele Identifier: CA310850169
Gene:

Linked Data

dbSNP Id: rs4815262
gnomAD v4: 20-2470857-G-T
MyVariant Identifiers: chr20:g.2470857G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470857G>T , CM000682.2:g.2470857G>T GRCh38
NC_000020.10:g.2451503G>T , CM000682.1:g.2451503G>T GRCh37
NC_000020.9:g.2399503G>T NCBI36
NG_042057.1:g.4997C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3099C>A ENSP00000456213.1:n.305-3099C>A
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