Canonical Allele Identifier: CA7481625

Gene: CHST14

Linked Data

• ClinVar Variation Id: 373593
• ClinVar RCV Id: RCV000414071 ; RCV000585577 ; RCV001086290 ; RCV002278648 ; RCV002365452
• dbSNP Id: rs144629123
• ExAC: 15:40764047 T / C
• gnomAD v2: 15-40764047-T-C
• gnomAD v3: 15-40471848-T-C
• gnomAD v4: 15-40471848-T-C
• MyVariant Identifiers: chr15:g.40764047T>C (hg19) ; chr15:g.40471848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40471848T>C , CM000677.2:g.40471848T>C	GRCh38
NC_000015.9:g.40764047T>C , CM000677.1:g.40764047T>C	GRCh37
NC_000015.8:g.38551339T>C	NCBI36
NG_017074.1:g.5888T>C , LRG_600:g.5888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.635T>C MANE Select	ENSP00000307297.6:p.Val212Ala
ENST00000306243.6:c.635T>C	ENSP00000307297.5:p.Val212Ala
ENST00000559991.1:c.560T>C	ENSP00000453882.1:p.Val187Ala
NM_130468.3:c.635T>C , LRG_600t1:c.635T>C	NP_569735.1:p.Val212Ala
NM_130468.4:c.635T>C MANE Select	NP_569735.1:p.Val212Ala