Canonical Allele Identifier: CA214778
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 128769
ClinVar RCV Id: RCV000116742
dbSNP Id: rs582736
ExAC: 15:40764549 G / A
gnomAD v2: 15-40764549-G-A
gnomAD v3: 15-40472350-G-A
gnomAD v4: 15-40472350-G-A
MyVariant Identifiers: chr15:g.40764549G>A (hg19) chr15:g.40472350G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472350G>A , CM000677.2:g.40472350G>A GRCh38
NC_000015.9:g.40764549G>A , CM000677.1:g.40764549G>A GRCh37
NC_000015.8:g.38551841G>A NCBI36
NG_017074.1:g.6390G>A , LRG_600:g.6390G>A

Transcript Alleles

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