Canonical Allele Identifier: CA391768194

Gene: CHST14

Linked Data

• ClinVar Variation Id: 432924
• ClinVar RCV Id: RCV000498443 ; RCV002524105 ; RCV003302737
• dbSNP Id: rs1555410784
• gnomAD v2: 15-40764370-C-T
• gnomAD v3: 15-40472171-C-T
• gnomAD v4: 15-40472171-C-T
• MyVariant Identifiers: chr15:g.40764370C>T (hg19) ; chr15:g.40472171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472171C>T , CM000677.2:g.40472171C>T	GRCh38
NC_000015.9:g.40764370C>T , CM000677.1:g.40764370C>T	GRCh37
NC_000015.8:g.38551662C>T	NCBI36
NG_017074.1:g.6211C>T , LRG_600:g.6211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.958C>T MANE Select	ENSP00000307297.6:p.Arg320Ter
ENST00000306243.6:c.958C>T	ENSP00000307297.5:p.Arg320Ter
ENST00000559991.1:c.883C>T	ENSP00000453882.1:p.Arg295Ter
NM_130468.3:c.958C>T , LRG_600t1:c.958C>T	NP_569735.1:p.Arg320Ter
NM_130468.4:c.958C>T MANE Select	NP_569735.1:p.Arg320Ter