Canonical Allele Identifier: CA14753374
Gene: CST3 HGNC NCBI
dbSNP:
2424577
gnomAD v2:
20:23613750 G / A
gnomAD v3:
20:23633113 G / A
gnomAD v4:
chr20-23633113-G-A
Joint Max Group AF 0.64465004 (AMR)
Genomes Max Group AF 0.64465004 (AMR)
MyVariant.info:
GRCh38 chr20:g.23633113G>A
GRCh37 chr20:g.23613750G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23633113G>A , CM000682.2:g.23633113G>A GRCh38
NC_000020.10:g.23613750G>A , CM000682.1:g.23613750G>A GRCh37
NC_000020.9:g.23561750G>A NCBI36
NG_012887.2:g.9825C>T
NG_012887.3:g.9825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398411.5:c.*2+801C>T ENSP00000381448.1:n.*2+801C>T
NM_001288614.1:c.*2+801C>T NP_001275543.1:n.*2+801C>T
NM_001288614.2:c.*2+801C>T NP_001275543.1:n.*2+801C>T
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