Canonical Allele Identifier: CA2171794950
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894337851
gnomAD v4: 15-40471210-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471210C>T , CM000677.2:g.40471210C>T GRCh38
NC_000015.9:g.40763409C>T , CM000677.1:g.40763409C>T GRCh37
NC_000015.8:g.38550701C>T NCBI36
NG_017074.1:g.5250C>T , LRG_600:g.5250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.-4C>T MANE Select ENSP00000307297.6:n.-4C>T
ENST00000306243.6:c.-4C>T ENSP00000307297.5:n.-4C>T
ENST00000559991.1:c.-4C>T ENSP00000453882.1:n.-4C>T
NM_130468.3:c.-4C>T , LRG_600t1:c.-4C>T NP_569735.1:n.-4C>T
NM_130468.4:c.-4C>T MANE Select NP_569735.1:n.-4C>T
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