Canonical Allele Identifier: CA14803594

Gene:

Linked Data

• ClinVar Variation Id: 1277215
• ClinVar RCV Id: RCV001690520
• dbSNP Id: rs6049290
• gnomAD v2: 20-2451504-C-T
• gnomAD v3: 20-2470858-C-T
• gnomAD v4: 20-2470858-C-T
• MyVariant Identifiers: chr20:g.2451504C>T (hg19) ; chr20:g.2470858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2470858C>T , CM000682.2:g.2470858C>T	GRCh38
NC_000020.10:g.2451504C>T , CM000682.1:g.2451504C>T	GRCh37
NC_000020.9:g.2399504C>T	NCBI36
NG_042057.1:g.4996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461548.1:c.305-3100G>A	ENSP00000456213.1:n.305-3100G>A