Canonical Allele Identifier: CA310850196

Gene:

Linked Data

• dbSNP Id: rs1046275427
• gnomAD v3: 20-2470879-G-A
• gnomAD v4: 20-2470879-G-A
• MyVariant Identifiers: chr20:g.2451525G>A (hg19) ; chr20:g.2470879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470879G>A , CM000682.2:g.2470879G>A	GRCh38
NC_000020.10:g.2451525G>A , CM000682.1:g.2451525G>A	GRCh37
NC_000020.9:g.2399525G>A	NCBI36
NG_042057.1:g.4975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3121C>T	ENSP00000456213.1:n.305-3121C>T