Canonical Allele Identifier: CA489974958
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1643403
ClinVar RCV Id: RCV002145857
dbSNP Id: rs938393246
gnomAD v2: 15-40763592-C-T
gnomAD v3: 15-40471393-C-T
gnomAD v4: 15-40471393-C-T
MyVariant Identifiers: chr15:g.40763592C>T (hg19) chr15:g.40471393C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471393C>T , CM000677.2:g.40471393C>T GRCh38
NC_000015.9:g.40763592C>T , CM000677.1:g.40763592C>T GRCh37
NC_000015.8:g.38550884C>T NCBI36
NG_017074.1:g.5433C>T , LRG_600:g.5433C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.180C>T MANE Select ENSP00000307297.6:p.Ile60=
ENST00000306243.6:c.180C>T ENSP00000307297.5:p.Ile60=
ENST00000559991.1:c.180C>T ENSP00000453882.1:p.Ile60=
NM_130468.3:c.180C>T , LRG_600t1:c.180C>T NP_569735.1:p.Ile60=
NM_130468.4:c.180C>T MANE Select NP_569735.1:p.Ile60=
Search 100 bp 5'
Search 100 bp 3'