Canonical Allele Identifier: CA7481693
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777905
ClinVar RCV Id: RCV002406030
dbSNP Id: rs750536030
ExAC: 15:40764465 G / A
gnomAD v2: 15-40764465-G-A
MyVariant Identifiers: chr15:g.40764465G>A (hg19) chr15:g.40472266G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472266G>A , CM000677.2:g.40472266G>A GRCh38
NC_000015.9:g.40764465G>A , CM000677.1:g.40764465G>A GRCh37
NC_000015.8:g.38551757G>A NCBI36
NG_017074.1:g.6306G>A , LRG_600:g.6306G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1053G>A MANE Select ENSP00000307297.6:p.Val351=
ENST00000306243.6:c.1053G>A ENSP00000307297.5:p.Val351=
ENST00000559991.1:c.978G>A ENSP00000453882.1:p.Val326=
NM_130468.3:c.1053G>A , LRG_600t1:c.1053G>A NP_569735.1:p.Val351=
NM_130468.4:c.1053G>A MANE Select NP_569735.1:p.Val351=
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