Canonical Allele Identifier: CA268823242
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs959573095
gnomAD v2: 15-40764753-T-C
gnomAD v3: 15-40472554-T-C
gnomAD v4: 15-40472554-T-C
MyVariant Identifiers: chr15:g.40764753T>C (hg19) chr15:g.40472554T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472554T>C , CM000677.2:g.40472554T>C GRCh38
NC_000015.9:g.40764753T>C , CM000677.1:g.40764753T>C GRCh37
NC_000015.8:g.38552045T>C NCBI36
NG_017074.1:g.6594T>C , LRG_600:g.6594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*210T>C MANE Select ENSP00000307297.6:n.*210T>C
ENST00000306243.6:c.*210T>C ENSP00000307297.5:n.*210T>C
ENST00000559991.1:c.*210T>C ENSP00000453882.1:n.*210T>C
NM_130468.3:c.*210T>C , LRG_600t1:c.*210T>C NP_569735.1:n.*210T>C
NM_130468.4:c.*210T>C MANE Select NP_569735.1:n.*210T>C
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