Canonical Allele Identifier: CA14803593
Gene:

Linked Data

ClinVar Variation Id: 1276452
ClinVar RCV Id: RCV001687644
dbSNP Id: rs4815262
gnomAD v2: 20-2451503-G-A
gnomAD v3: 20-2470857-G-A
gnomAD v4: 20-2470857-G-A
MyVariant Identifiers: chr20:g.2451503G>A (hg19) chr20:g.2470857G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470857G>A , CM000682.2:g.2470857G>A GRCh38
NC_000020.10:g.2451503G>A , CM000682.1:g.2451503G>A GRCh37
NC_000020.9:g.2399503G>A NCBI36
NG_042057.1:g.4997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3099C>T ENSP00000456213.1:n.305-3099C>T
Search 100 bp 5'
Search 100 bp 3'