Canonical Allele Identifier: CA968992215
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1297125489
gnomAD v3: 15-40472568-T-TG
gnomAD v4: 15-40472568-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472574dup , CM000677.2:g.40472574dup GRCh38
NC_000015.9:g.40764773dup , CM000677.1:g.40764773dup GRCh37
NC_000015.8:g.38552065dup NCBI36
NG_017074.1:g.6614dup , LRG_600:g.6614dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*230dup MANE Select ENSP00000307297.6:n.*230dup
ENST00000306243.6:c.*230dup ENSP00000307297.5:n.*230dup
ENST00000559991.1:c.*230dup ENSP00000453882.1:n.*230dup
NM_130468.3:c.*230dup , LRG_600t1:c.*230dup NP_569735.1:n.*230dup
NM_130468.4:c.*230dup MANE Select NP_569735.1:n.*230dup
Search 100 bp 5'
Search 100 bp 3'