Canonical Allele Identifier: CA209479168
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2981355
ClinVar RCV Id: RCV003832497
dbSNP Id: rs981969686
gnomAD v2: 10-73767407-C-T
gnomAD v3: 10-72007649-C-T
gnomAD v4: 10-72007649-C-T
MyVariant Identifiers: chr10:g.73767407C>T (hg19) chr10:g.72007649C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007649C>T , CM000672.2:g.72007649C>T GRCh38
NC_000010.10:g.73767407C>T , CM000672.1:g.73767407C>T GRCh37
NC_000010.9:g.73437413C>T NCBI36
NG_012635.1:g.48288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.618C>T MANE Select ENSP00000362207.4:p.Phe206=
ENST00000373115.4:c.618C>T ENSP00000362207.4:p.Phe206=
NM_004273.4:c.618C>T NP_004264.2:p.Phe206=
XM_006718075.2:c.618C>T XP_006718138.1:p.Phe206=
XM_011540369.1:c.618C>T XP_011538671.1:p.Phe206=
XM_006718075.4:c.618C>T XP_006718138.1:p.Phe206=
XM_011540369.2:c.618C>T XP_011538671.1:p.Phe206=
NM_004273.5:c.618C>T MANE Select NP_004264.2:p.Phe206=
Search 100 bp 5'
Search 100 bp 3'