Canonical Allele Identifier: CA391762099
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 656214
ClinVar RCV Id: RCV000812575
dbSNP Id: rs1321331803
gnomAD v2: 15-40763489-C-T
gnomAD v3: 15-40471290-C-T
gnomAD v4: 15-40471290-C-T
MyVariant Identifiers: chr15:g.40763489C>T (hg19) chr15:g.40471290C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471290C>T , CM000677.2:g.40471290C>T GRCh38
NC_000015.9:g.40763489C>T , CM000677.1:g.40763489C>T GRCh37
NC_000015.8:g.38550781C>T NCBI36
NG_017074.1:g.5330C>T , LRG_600:g.5330C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.77C>T MANE Select ENSP00000307297.6:p.Pro26Leu
ENST00000306243.6:c.77C>T ENSP00000307297.5:p.Pro26Leu
ENST00000559991.1:c.77C>T ENSP00000453882.1:p.Pro26Leu
NM_130468.3:c.77C>T , LRG_600t1:c.77C>T NP_569735.1:p.Pro26Leu
NM_130468.4:c.77C>T MANE Select NP_569735.1:p.Pro26Leu
Search 100 bp 5'
Search 100 bp 3'