Canonical Allele Identifier: CA391768960
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 579085
ClinVar RCV Id: RCV000702273
dbSNP Id: rs1566969372
gnomAD v4: 15-40472294-C-G
MyVariant Identifiers: chr15:g.40764493C>G (hg19) chr15:g.40472294C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472294C>G , CM000677.2:g.40472294C>G GRCh38
NC_000015.9:g.40764493C>G , CM000677.1:g.40764493C>G GRCh37
NC_000015.8:g.38551785C>G NCBI36
NG_017074.1:g.6334C>G , LRG_600:g.6334C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1081C>G MANE Select ENSP00000307297.6:p.Leu361Val
ENST00000306243.6:c.1081C>G ENSP00000307297.5:p.Leu361Val
ENST00000559991.1:c.1006C>G ENSP00000453882.1:p.Leu336Val
NM_130468.3:c.1081C>G , LRG_600t1:c.1081C>G NP_569735.1:p.Leu361Val
NM_130468.4:c.1081C>G MANE Select NP_569735.1:p.Leu361Val
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