Canonical Allele Identifier: CA319675914
Gene:

Linked Data

dbSNP Id: rs916596014
gnomAD v3: 21-27324075-G-C
gnomAD v4: 21-27324075-G-C
MyVariant Identifiers: chr21:g.28696394G>C (hg19) chr21:g.27324075G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.27324075G>C , CM000683.2:g.27324075G>C GRCh38
NC_000021.8:g.28696394G>C , CM000683.1:g.28696394G>C GRCh37
NC_000021.7:g.27618265G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430359.2:n.834+26424C>G
XR_937629.1:n.834+26424C>G
XR_937630.1:n.834+26424C>G
XR_430359.3:n.847+26424C>G
XR_937629.2:n.847+26424C>G
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