Canonical Allele Identifier: CA742353534
Gene:

Linked Data

dbSNP Id: rs1200239766
gnomAD v3: 20-2470942-G-A
gnomAD v4: 20-2470942-G-A
MyVariant Identifiers: chr20:g.2451588G>A (hg19) chr20:g.2470942G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470942G>A , CM000682.2:g.2470942G>A GRCh38
NC_000020.10:g.2451588G>A , CM000682.1:g.2451588G>A GRCh37
NC_000020.9:g.2399588G>A NCBI36
NG_042057.1:g.4912C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3184C>T ENSP00000456213.1:n.305-3184C>T
Search 100 bp 5'
Search 100 bp 3'