Canonical Allele Identifier: CA645561185

Gene: CHST3

Linked Data

• ClinVar Variation Id: 1474566
• ClinVar RCV Id: RCV002007657
• dbSNP Id: rs2131776450
• gnomAD v4: 10-72008203-TC-T
• COSMIC: COSM4448684

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72008208del , CM000672.2:g.72008208del	GRCh38
NC_000010.10:g.73767966del , CM000672.1:g.73767966del	GRCh37
NC_000010.9:g.73437972del	NCBI36
NG_012635.1:g.48847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.1177del MANE Select	ENSP00000362207.4:p.Leu393Ter
ENST00000373115.4:c.1177del	ENSP00000362207.4:p.Leu393Ter
NM_004273.4:c.1177del	NP_004264.2:p.Leu393Ter
XM_006718075.2:c.1177del	XP_006718138.1:p.Leu393Ter
XM_011540369.1:c.1177del	XP_011538671.1:p.Leu393Ter
XM_006718075.4:c.1177del	XP_006718138.1:p.Leu393Ter
XM_011540369.2:c.1177del	XP_011538671.1:p.Leu393Ter
NM_004273.5:c.1177del MANE Select	NP_004264.2:p.Leu393Ter