Canonical Allele Identifier: CA968992190
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894365584
gnomAD v3: 15-40472514-C-T
gnomAD v4: 15-40472514-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472514C>T , CM000677.2:g.40472514C>T GRCh38
NC_000015.9:g.40764713C>T , CM000677.1:g.40764713C>T GRCh37
NC_000015.8:g.38552005C>T NCBI36
NG_017074.1:g.6554C>T , LRG_600:g.6554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*170C>T MANE Select ENSP00000307297.6:n.*170C>T
ENST00000306243.6:c.*170C>T ENSP00000307297.5:n.*170C>T
ENST00000559991.1:c.*170C>T ENSP00000453882.1:n.*170C>T
NM_130468.3:c.*170C>T , LRG_600t1:c.*170C>T NP_569735.1:n.*170C>T
NM_130468.4:c.*170C>T MANE Select NP_569735.1:n.*170C>T
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