Canonical Allele Identifier: CA268822089
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2447077
ClinVar RCV Id: RCV003176301
dbSNP Id: rs1035955777
gnomAD v2: 15-40763490-T-C
gnomAD v4: 15-40471291-T-C
MyVariant Identifiers: chr15:g.40763490T>C (hg19) chr15:g.40471291T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471291T>C , CM000677.2:g.40471291T>C GRCh38
NC_000015.9:g.40763490T>C , CM000677.1:g.40763490T>C GRCh37
NC_000015.8:g.38550782T>C NCBI36
NG_017074.1:g.5331T>C , LRG_600:g.5331T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.78T>C MANE Select ENSP00000307297.6:p.Pro26=
ENST00000306243.6:c.78T>C ENSP00000307297.5:p.Pro26=
ENST00000559991.1:c.78T>C ENSP00000453882.1:p.Pro26=
NM_130468.3:c.78T>C , LRG_600t1:c.78T>C NP_569735.1:p.Pro26=
NM_130468.4:c.78T>C MANE Select NP_569735.1:p.Pro26=
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