Canonical Allele Identifier: CA7481603

Gene: CHST14

Linked Data

• ClinVar Variation Id: 536424
• ClinVar RCV Id: RCV000644873 ; RCV001509475 ; RCV002279464 ; RCV002334143 ; RCV003905742
• dbSNP Id: rs200761477
• ExAC: 15:40763883 G / A
• gnomAD v2: 15-40763883-G-A
• gnomAD v3: 15-40471684-G-A
• gnomAD v4: 15-40471684-G-A
• MyVariant Identifiers: chr15:g.40763883G>A (hg19) ; chr15:g.40471684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40471684G>A , CM000677.2:g.40471684G>A	GRCh38
NC_000015.9:g.40763883G>A , CM000677.1:g.40763883G>A	GRCh37
NC_000015.8:g.38551175G>A	NCBI36
NG_017074.1:g.5724G>A , LRG_600:g.5724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.471G>A MANE Select	ENSP00000307297.6:p.Val157=
ENST00000306243.6:c.471G>A	ENSP00000307297.5:p.Val157=
ENST00000559991.1:c.427-31G>A	ENSP00000453882.1:n.427-31G>A
NM_130468.3:c.471G>A , LRG_600t1:c.471G>A	NP_569735.1:p.Val157=
NM_130468.4:c.471G>A MANE Select	NP_569735.1:p.Val157=