Canonical Allele Identifier: CA742353495

Gene:

Linked Data

• dbSNP Id: rs1355759261
• gnomAD v3: 20-2470864-A-G
• gnomAD v4: 20-2470864-A-G
• MyVariant Identifiers: chr20:g.2451510A>G (hg19) ; chr20:g.2470864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470864A>G , CM000682.2:g.2470864A>G	GRCh38
NC_000020.10:g.2451510A>G , CM000682.1:g.2451510A>G	GRCh37
NC_000020.9:g.2399510A>G	NCBI36
NG_042057.1:g.4990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3106T>C	ENSP00000456213.1:n.305-3106T>C