Canonical Allele Identifier: CA310850265

Gene:

Linked Data

• dbSNP Id: rs573906153
• gnomAD v2: 20-2451615-A-C
• gnomAD v3: 20-2470969-A-C
• gnomAD v4: 20-2470969-A-C
• MyVariant Identifiers: chr20:g.2451615A>C (hg19) ; chr20:g.2470969A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470969A>C , CM000682.2:g.2470969A>C	GRCh38
NC_000020.10:g.2451615A>C , CM000682.1:g.2451615A>C	GRCh37
NC_000020.9:g.2399615A>C	NCBI36
NG_042057.1:g.4885T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3211T>G	ENSP00000456213.1:n.305-3211T>G