Canonical Allele Identifier: CA742353498

Gene:

Linked Data

• dbSNP Id: rs1229850109
• gnomAD v3: 20-2470867-G-A
• gnomAD v4: 20-2470867-G-A
• MyVariant Identifiers: chr20:g.2451513G>A (hg19) ; chr20:g.2470867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470867G>A , CM000682.2:g.2470867G>A	GRCh38
NC_000020.10:g.2451513G>A , CM000682.1:g.2451513G>A	GRCh37
NC_000020.9:g.2399513G>A	NCBI36
NG_042057.1:g.4987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3109C>T	ENSP00000456213.1:n.305-3109C>T