Canonical Allele Identifier: CA749618743

Gene:

Linked Data

• dbSNP Id: rs1203374297
• MyVariant Identifiers: chr21:g.43168892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168892G>C , CM000683.2:g.43168892G>C	GRCh38
NG_009823.1:g.4862G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2145C>G