Canonical Allele Identifier: CA489975506
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1418700068
gnomAD v2: 15-40764510-G-A
gnomAD v4: 15-40472311-G-A
MyVariant Identifiers: chr15:g.40764510G>A (hg19) chr15:g.40472311G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472311G>A , CM000677.2:g.40472311G>A GRCh38
NC_000015.9:g.40764510G>A , CM000677.1:g.40764510G>A GRCh37
NC_000015.8:g.38551802G>A NCBI36
NG_017074.1:g.6351G>A , LRG_600:g.6351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1098G>A MANE Select ENSP00000307297.6:p.Leu366=
ENST00000306243.6:c.1098G>A ENSP00000307297.5:p.Leu366=
ENST00000559991.1:c.1023G>A ENSP00000453882.1:p.Leu341=
NM_130468.3:c.1098G>A , LRG_600t1:c.1098G>A NP_569735.1:p.Leu366=
NM_130468.4:c.1098G>A MANE Select NP_569735.1:p.Leu366=
Search 100 bp 5'
Search 100 bp 3'