Canonical Allele Identifier: CA281522

Gene: CHST14

Linked Data

• ClinVar Variation Id: 2337
• ClinVar RCV Id: RCV000002427 ; RCV001290021
• dbSNP Id: rs121908257
• ExAC: 15:40764050 G / C
• gnomAD v2: 15-40764050-G-C
• gnomAD v3: 15-40471851-G-C
• gnomAD v4: 15-40471851-G-C
• MyVariant Identifiers: chr15:g.40764050G>C (hg19) ; chr15:g.40471851G>C (hg38)
• PubMed: PMID:11370633 ; PMID:20004762 ; PMID:26373698

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40471851G>C , CM000677.2:g.40471851G>C	GRCh38
NC_000015.9:g.40764050G>C , CM000677.1:g.40764050G>C	GRCh37
NC_000015.8:g.38551342G>C	NCBI36
NG_017074.1:g.5891G>C , LRG_600:g.5891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.638G>C MANE Select	ENSP00000307297.6:p.Arg213Pro
ENST00000306243.6:c.638G>C	ENSP00000307297.5:p.Arg213Pro
ENST00000559991.1:c.563G>C	ENSP00000453882.1:p.Arg188Pro
NM_130468.3:c.638G>C , LRG_600t1:c.638G>C	NP_569735.1:p.Arg213Pro
NM_130468.4:c.638G>C MANE Select	NP_569735.1:p.Arg213Pro