Canonical Allele Identifier: CA268822190

Gene: CHST14

Linked Data

• ClinVar Variation Id: 499908
• ClinVar RCV Id: RCV000595222 ; RCV001468997 ; RCV002420575
• dbSNP Id: rs1014902072
• gnomAD v3: 15-40471411-C-G
• gnomAD v4: 15-40471411-C-G
• MyVariant Identifiers: chr15:g.40763610C>G (hg19) ; chr15:g.40471411C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40471411C>G , CM000677.2:g.40471411C>G	GRCh38
NC_000015.9:g.40763610C>G , CM000677.1:g.40763610C>G	GRCh37
NC_000015.8:g.38550902C>G	NCBI36
NG_017074.1:g.5451C>G , LRG_600:g.5451C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.198C>G MANE Select	ENSP00000307297.6:p.Ala66=
ENST00000306243.6:c.198C>G	ENSP00000307297.5:p.Ala66=
ENST00000559991.1:c.198C>G	ENSP00000453882.1:p.Ala66=
NM_130468.3:c.198C>G , LRG_600t1:c.198C>G	NP_569735.1:p.Ala66=
NM_130468.4:c.198C>G MANE Select	NP_569735.1:p.Ala66=