Canonical Allele Identifier: CA7481540
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470416
ClinVar RCV Id: RCV001964167 RCV003146422 RCV003481229
dbSNP Id: rs766643057
ExAC: 15:40763432 C / A
gnomAD v2: 15-40763432-C-A
gnomAD v3: 15-40471233-C-A
gnomAD v4: 15-40471233-C-A
MyVariant Identifiers: chr15:g.40763432C>A (hg19) chr15:g.40471233C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471233C>A , CM000677.2:g.40471233C>A GRCh38
NC_000015.9:g.40763432C>A , CM000677.1:g.40763432C>A GRCh37
NC_000015.8:g.38550724C>A NCBI36
NG_017074.1:g.5273C>A , LRG_600:g.5273C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.20C>A MANE Select ENSP00000307297.6:p.Thr7Asn
ENST00000306243.6:c.20C>A ENSP00000307297.5:p.Thr7Asn
ENST00000559991.1:c.20C>A ENSP00000453882.1:p.Thr7Asn
NM_130468.3:c.20C>A , LRG_600t1:c.20C>A NP_569735.1:p.Thr7Asn
NM_130468.4:c.20C>A MANE Select NP_569735.1:p.Thr7Asn
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