Canonical Allele Identifier: CA7481647

Gene: CHST14

Linked Data

• ClinVar Variation Id: 262313
• ClinVar RCV Id: RCV000250602 ; RCV000725980 ; RCV001087570 ; RCV002278224 ; RCV002418090
• dbSNP Id: rs139229738
• ExAC: 15:40764219 T / C
• gnomAD v2: 15-40764219-T-C
• gnomAD v3: 15-40472020-T-C
• gnomAD v4: 15-40472020-T-C
• MyVariant Identifiers: chr15:g.40764219T>C (hg19) ; chr15:g.40472020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472020T>C , CM000677.2:g.40472020T>C	GRCh38
NC_000015.9:g.40764219T>C , CM000677.1:g.40764219T>C	GRCh37
NC_000015.8:g.38551511T>C	NCBI36
NG_017074.1:g.6060T>C , LRG_600:g.6060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.807T>C MANE Select	ENSP00000307297.6:p.Asp269=
ENST00000306243.6:c.807T>C	ENSP00000307297.5:p.Asp269=
ENST00000559991.1:c.732T>C	ENSP00000453882.1:p.Asp244=
NM_130468.3:c.807T>C , LRG_600t1:c.807T>C	NP_569735.1:p.Asp269=
NM_130468.4:c.807T>C MANE Select	NP_569735.1:p.Asp269=