Canonical Allele Identifier: CA408424074

Gene: CST3

Linked Data

• dbSNP Id: rs1376740354
• gnomAD v2: 20-23618274-C-T
• gnomAD v4: 20-23637637-C-T
• MyVariant Identifiers: chr20:g.23618274C>T (hg19) ; chr20:g.23637637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637637C>T , CM000682.2:g.23637637C>T	GRCh38
NC_000020.10:g.23618274C>T , CM000682.1:g.23618274C>T	GRCh37
NC_000020.9:g.23566274C>T	NCBI36
NG_012887.2:g.5301G>A
NG_012887.3:g.5301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.226G>A MANE Select	ENSP00000366124.3:p.Val76Met
ENST00000376925.7:c.226G>A	ENSP00000366124.3:p.Val76Met
ENST00000398409.1:c.226G>A	ENSP00000381446.1:p.Val76Met
ENST00000398411.5:c.226G>A	ENSP00000381448.1:p.Val76Met
NM_000099.3:c.226G>A	NP_000090.1:p.Val76Met
NM_001288614.1:c.226G>A	NP_001275543.1:p.Val76Met
NM_000099.4:c.226G>A MANE Select	NP_000090.1:p.Val76Met
NM_001288614.2:c.226G>A	NP_001275543.1:p.Val76Met