Canonical Allele Identifier: CA281524

Gene: CHST14

Linked Data

• ClinVar Variation Id: 2339
• ClinVar RCV Id: RCV000002429 ; RCV000523135 ; RCV001290020 ; RCV002444414
• dbSNP Id: rs121908258
• ExAC: 15:40764290 A / G
• gnomAD v2: 15-40764290-A-G
• gnomAD v3: 15-40472091-A-G
• gnomAD v4: 15-40472091-A-G
• MyVariant Identifiers: chr15:g.40764290A>G (hg19) ; chr15:g.40472091A>G (hg38)
• PubMed: PMID:10766984 ; PMID:20004762 ; PMID:20533528

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472091A>G , CM000677.2:g.40472091A>G	GRCh38
NC_000015.9:g.40764290A>G , CM000677.1:g.40764290A>G	GRCh37
NC_000015.8:g.38551582A>G	NCBI36
NG_017074.1:g.6131A>G , LRG_600:g.6131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.878A>G MANE Select	ENSP00000307297.6:p.Tyr293Cys
ENST00000306243.6:c.878A>G	ENSP00000307297.5:p.Tyr293Cys
ENST00000559991.1:c.803A>G	ENSP00000453882.1:p.Tyr268Cys
NM_130468.3:c.878A>G , LRG_600t1:c.878A>G	NP_569735.1:p.Tyr293Cys
NM_130468.4:c.878A>G MANE Select	NP_569735.1:p.Tyr293Cys