Canonical Allele Identifier: CA391769165
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1222805408
gnomAD v2: 15-40764535-C-G
gnomAD v4: 15-40472336-C-G
MyVariant Identifiers: chr15:g.40764535C>G (hg19) chr15:g.40472336C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472336C>G , CM000677.2:g.40472336C>G GRCh38
NC_000015.9:g.40764535C>G , CM000677.1:g.40764535C>G GRCh37
NC_000015.8:g.38551827C>G NCBI36
NG_017074.1:g.6376C>G , LRG_600:g.6376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1123C>G MANE Select ENSP00000307297.6:p.Gln375Glu
ENST00000306243.6:c.1123C>G ENSP00000307297.5:p.Gln375Glu
ENST00000559991.1:c.1048C>G ENSP00000453882.1:p.Gln350Glu
NM_130468.3:c.1123C>G , LRG_600t1:c.1123C>G NP_569735.1:p.Gln375Glu
NM_130468.4:c.1123C>G MANE Select NP_569735.1:p.Gln375Glu
Search 100 bp 5'
Search 100 bp 3'