Canonical Allele Identifier: CA9790252
Gene: CST3 HGNC NCBI

Linked Data

dbSNP Id: rs766473502
ExAC: 20:23618326 G / A
gnomAD v2: 20-23618326-G-A
gnomAD v3: 20-23637689-G-A
gnomAD v4: 20-23637689-G-A
MyVariant Identifiers: chr20:g.23618326G>A (hg19) chr20:g.23637689G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637689G>A , CM000682.2:g.23637689G>A GRCh38
NC_000020.10:g.23618326G>A , CM000682.1:g.23618326G>A GRCh37
NC_000020.9:g.23566326G>A NCBI36
NG_012887.2:g.5249C>T
NG_012887.3:g.5249C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.174C>T MANE Select ENSP00000366124.3:p.Gly58=
ENST00000376925.7:c.174C>T ENSP00000366124.3:p.Gly58=
ENST00000398409.1:c.174C>T ENSP00000381446.1:p.Gly58=
ENST00000398411.5:c.174C>T ENSP00000381448.1:p.Gly58=
NM_000099.3:c.174C>T NP_000090.1:p.Gly58=
NM_001288614.1:c.174C>T NP_001275543.1:p.Gly58=
NM_000099.4:c.174C>T MANE Select NP_000090.1:p.Gly58=
NM_001288614.2:c.174C>T NP_001275543.1:p.Gly58=
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