Canonical Allele Identifier: CA209479416
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038446
ClinVar RCV Id: RCV001341758
dbSNP Id: rs1004650270
gnomAD v2: 10-73768031-C-G
gnomAD v4: 10-72008273-C-G
MyVariant Identifiers: chr10:g.73768031C>G (hg19) chr10:g.72008273C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008273C>G , CM000672.2:g.72008273C>G GRCh38
NC_000010.10:g.73768031C>G , CM000672.1:g.73768031C>G GRCh37
NC_000010.9:g.73438037C>G NCBI36
NG_012635.1:g.48912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1242C>G MANE Select ENSP00000362207.4:p.Ile414Met
ENST00000373115.4:c.1242C>G ENSP00000362207.4:p.Ile414Met
NM_004273.4:c.1242C>G NP_004264.2:p.Ile414Met
XM_006718075.2:c.1242C>G XP_006718138.1:p.Ile414Met
XM_011540369.1:c.1242C>G XP_011538671.1:p.Ile414Met
XM_006718075.4:c.1242C>G XP_006718138.1:p.Ile414Met
XM_011540369.2:c.1242C>G XP_011538671.1:p.Ile414Met
NM_004273.5:c.1242C>G MANE Select NP_004264.2:p.Ile414Met
Search 100 bp 5'
Search 100 bp 3'