Canonical Allele Identifier: CA268823260
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs145214754
gnomAD v3: 15-40472572-G-A
gnomAD v4: 15-40472572-G-A
MyVariant Identifiers: chr15:g.40764771G>A (hg19) chr15:g.40472572G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472572G>A , CM000677.2:g.40472572G>A GRCh38
NC_000015.9:g.40764771G>A , CM000677.1:g.40764771G>A GRCh37
NC_000015.8:g.38552063G>A NCBI36
NG_017074.1:g.6612G>A , LRG_600:g.6612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*228G>A MANE Select ENSP00000307297.6:n.*228G>A
ENST00000306243.6:c.*228G>A ENSP00000307297.5:n.*228G>A
ENST00000559991.1:c.*228G>A ENSP00000453882.1:n.*228G>A
NM_130468.3:c.*228G>A , LRG_600t1:c.*228G>A NP_569735.1:n.*228G>A
NM_130468.4:c.*228G>A MANE Select NP_569735.1:n.*228G>A
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