Canonical Allele Identifier: CA310850313
Gene:

Linked Data

dbSNP Id: rs1017710408
gnomAD v2: 20-2451644-C-T
gnomAD v3: 20-2470998-C-T
gnomAD v4: 20-2470998-C-T
MyVariant Identifiers: chr20:g.2451644C>T (hg19) chr20:g.2470998C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470998C>T , CM000682.2:g.2470998C>T GRCh38
NC_000020.10:g.2451644C>T , CM000682.1:g.2451644C>T GRCh37
NC_000020.9:g.2399644C>T NCBI36
NG_042057.1:g.4856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3240G>A ENSP00000456213.1:n.305-3240G>A
Search 100 bp 5'
Search 100 bp 3'