Canonical Allele Identifier: CA10628943

Gene: CHST3

Linked Data

• ClinVar Variation Id: 300632
• ClinVar RCV Id: RCV000309612 ; RCV000344745 ; RCV000366701 ; RCV000395653
• dbSNP Id: rs4148949
• gnomAD v2: 10-73770651-T-C
• gnomAD v3: 10-72010893-T-C
• gnomAD v4: 10-72010893-T-C
• MyVariant Identifiers: chr10:g.73770651T>C (hg19) ; chr10:g.72010893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72010893T>C , CM000672.2:g.72010893T>C	GRCh38
NC_000010.10:g.73770651T>C , CM000672.1:g.73770651T>C	GRCh37
NC_000010.9:g.73440657T>C	NCBI36
NG_012635.1:g.51532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373115.5:c.*2422T>C MANE Select	ENSP00000362207.4:n.*2422T>C
ENST00000373115.4:c.*2422T>C	ENSP00000362207.4:n.*2422T>C
NM_004273.4:c.*2422T>C	NP_004264.2:n.*2422T>C
XM_006718075.2:c.*2422T>C	XP_006718138.1:n.*2422T>C
XM_011540369.1:c.*2422T>C	XP_011538671.1:n.*2422T>C
XM_006718075.4:c.*2422T>C	XP_006718138.1:n.*2422T>C
XM_011540369.2:c.*2422T>C	XP_011538671.1:n.*2422T>C
NM_004273.5:c.*2422T>C MANE Select	NP_004264.2:n.*2422T>C