Canonical Allele Identifier: CA7481700
Gene: CHST14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310688
ClinVar RCV Id: RCV001767802 RCV003298972
dbSNP Id: rs756985970
ExAC: 15:40764530 C / T
gnomAD v2: 15-40764530-C-T
gnomAD v3: 15-40472331-C-T
gnomAD v4: 15-40472331-C-T
MyVariant Identifiers: chr15:g.40764530C>T (hg19) chr15:g.40472331C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472331C>T , CM000677.2:g.40472331C>T GRCh38
NC_000015.9:g.40764530C>T , CM000677.1:g.40764530C>T GRCh37
NC_000015.8:g.38551822C>T NCBI36
NG_017074.1:g.6371C>T , LRG_600:g.6371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1118C>T MANE Select ENSP00000307297.6:p.Ala373Val
ENST00000306243.6:c.1118C>T ENSP00000307297.5:p.Ala373Val
ENST00000559991.1:c.1043C>T ENSP00000453882.1:p.Ala348Val
NM_130468.3:c.1118C>T , LRG_600t1:c.1118C>T NP_569735.1:p.Ala373Val
NM_130468.4:c.1118C>T MANE Select NP_569735.1:p.Ala373Val
Search 100 bp 5'
Search 100 bp 3'