Canonical Allele Identifier: CA968992196
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894365931
gnomAD v3: 15-40472540-C-A
gnomAD v4: 15-40472540-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472540C>A , CM000677.2:g.40472540C>A GRCh38
NC_000015.9:g.40764739C>A , CM000677.1:g.40764739C>A GRCh37
NC_000015.8:g.38552031C>A NCBI36
NG_017074.1:g.6580C>A , LRG_600:g.6580C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*196C>A MANE Select ENSP00000307297.6:n.*196C>A
ENST00000306243.6:c.*196C>A ENSP00000307297.5:n.*196C>A
ENST00000559991.1:c.*196C>A ENSP00000453882.1:n.*196C>A
NM_130468.3:c.*196C>A , LRG_600t1:c.*196C>A NP_569735.1:n.*196C>A
NM_130468.4:c.*196C>A MANE Select NP_569735.1:n.*196C>A
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