Canonical Allele Identifier: CA391763763

Gene: CHST14

Linked Data

• ClinVar Variation Id: 593537
• ClinVar RCV Id: RCV000728610 ; RCV004026950
• dbSNP Id: rs1368747984
• gnomAD v2: 15-40763537-C-G
• gnomAD v3: 15-40471338-C-G
• gnomAD v4: 15-40471338-C-G
• MyVariant Identifiers: chr15:g.40763537C>G (hg19) ; chr15:g.40471338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40471338C>G , CM000677.2:g.40471338C>G	GRCh38
NC_000015.9:g.40763537C>G , CM000677.1:g.40763537C>G	GRCh37
NC_000015.8:g.38550829C>G	NCBI36
NG_017074.1:g.5378C>G , LRG_600:g.5378C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.125C>G MANE Select	ENSP00000307297.6:p.Pro42Arg
ENST00000306243.6:c.125C>G	ENSP00000307297.5:p.Pro42Arg
ENST00000559991.1:c.125C>G	ENSP00000453882.1:p.Pro42Arg
NM_130468.3:c.125C>G , LRG_600t1:c.125C>G	NP_569735.1:p.Pro42Arg
NM_130468.4:c.125C>G MANE Select	NP_569735.1:p.Pro42Arg