Canonical Allele Identifier: CA310850285

Gene:

Linked Data

• dbSNP Id: rs950712760
• gnomAD v2: 20-2451630-G-C
• gnomAD v3: 20-2470984-G-C
• gnomAD v4: 20-2470984-G-C
• MyVariant Identifiers: chr20:g.2451630G>C (hg19) ; chr20:g.2470984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470984G>C , CM000682.2:g.2470984G>C	GRCh38
NC_000020.10:g.2451630G>C , CM000682.1:g.2451630G>C	GRCh37
NC_000020.9:g.2399630G>C	NCBI36
NG_042057.1:g.4870C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3226C>G	ENSP00000456213.1:n.305-3226C>G