Canonical Allele Identifier: CA634141205

Gene:

Linked Data

• dbSNP Id: rs1470819924
• gnomAD v2: 20-2451637-T-A
• gnomAD v3: 20-2470991-T-A
• gnomAD v4: 20-2470991-T-A
• MyVariant Identifiers: chr20:g.2451637T>A (hg19) ; chr20:g.2470991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470991T>A , CM000682.2:g.2470991T>A	GRCh38
NC_000020.10:g.2451637T>A , CM000682.1:g.2451637T>A	GRCh37
NC_000020.9:g.2399637T>A	NCBI36
NG_042057.1:g.4863A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3233A>T	ENSP00000456213.1:n.305-3233A>T