Canonical Allele Identifier: CA617557508
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1424032918
gnomAD v2: 15-40764520-AC-A
gnomAD v3: 15-40472321-AC-A
gnomAD v4: 15-40472321-AC-A
MyVariant Identifiers: chr15:g.40764521del (hg19) chr15:g.40472322del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472323del , CM000677.2:g.40472323del GRCh38
NC_000015.9:g.40764522del , CM000677.1:g.40764522del GRCh37
NC_000015.8:g.38551814del NCBI36
NG_017074.1:g.6363del , LRG_600:g.6363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1110del MANE Select ENSP00000307297.6:p.Lys371ArgfsTer?
ENST00000306243.6:c.1110del ENSP00000307297.5:p.Lys371ArgfsTer?
ENST00000559991.1:c.1035del ENSP00000453882.1:p.Lys346ArgfsTer?
NM_130468.3:c.1110del , LRG_600t1:c.1110del NP_569735.1:p.Lys371ArgfsTer?
NM_130468.4:c.1110del MANE Select NP_569735.1:p.Lys371ArgfsTer?
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