Canonical Allele Identifier: CA7481671
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 287372
ClinVar RCV Id: RCV000268389 RCV001270131
dbSNP Id: rs556002453
ExAC: 15:40764353 G / A
gnomAD v2: 15-40764353-G-A
gnomAD v3: 15-40472154-G-A
gnomAD v4: 15-40472154-G-A
MyVariant Identifiers: chr15:g.40764353G>A (hg19) chr15:g.40472154G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472154G>A , CM000677.2:g.40472154G>A GRCh38
NC_000015.9:g.40764353G>A , CM000677.1:g.40764353G>A GRCh37
NC_000015.8:g.38551645G>A NCBI36
NG_017074.1:g.6194G>A , LRG_600:g.6194G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.941G>A MANE Select ENSP00000307297.6:p.Arg314Gln
ENST00000306243.6:c.941G>A ENSP00000307297.5:p.Arg314Gln
ENST00000559991.1:c.866G>A ENSP00000453882.1:p.Arg289Gln
NM_130468.3:c.941G>A , LRG_600t1:c.941G>A NP_569735.1:p.Arg314Gln
NM_130468.4:c.941G>A MANE Select NP_569735.1:p.Arg314Gln
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Search 100 bp 3'