Canonical Allele Identifier: CA281526

Gene: CHST14

Linked Data

• ClinVar Variation Id: 2340
• ClinVar RCV Id: RCV000002430 ; RCV001290019
• dbSNP Id: rs267606729
• gnomAD v3: 15-40472055-C-T
• gnomAD v4: 15-40472055-C-T
• MyVariant Identifiers: chr15:g.40764254C>T (hg19) ; chr15:g.40472055C>T (hg38)
• PubMed: PMID:12508273 ; PMID:16158441 ; PMID:20503305 ; PMID:20533528

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472055C>T , CM000677.2:g.40472055C>T	GRCh38
NC_000015.9:g.40764254C>T , CM000677.1:g.40764254C>T	GRCh37
NC_000015.8:g.38551546C>T	NCBI36
NG_017074.1:g.6095C>T , LRG_600:g.6095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.842C>T MANE Select	ENSP00000307297.6:p.Pro281Leu
ENST00000306243.6:c.842C>T	ENSP00000307297.5:p.Pro281Leu
ENST00000559991.1:c.767C>T	ENSP00000453882.1:p.Pro256Leu
NM_130468.3:c.842C>T , LRG_600t1:c.842C>T	NP_569735.1:p.Pro281Leu
NM_130468.4:c.842C>T MANE Select	NP_569735.1:p.Pro281Leu