Canonical Allele Identifier: CA186116

Gene: CHST8

Linked Data

• ClinVar Variation Id: 183645
• ClinVar RCV Id: RCV000162277 ; RCV000890550 ; RCV003917553
• dbSNP Id: rs149660944
• ExAC: 19:34262922 C / T
• gnomAD v2: 19-34262922-C-T
• gnomAD v3: 19-33772017-C-T
• gnomAD v4: 19-33772017-C-T
• MyVariant Identifiers: chr19:g.34262922C>T (hg19) ; chr19:g.33772017C>T (hg38)
• PubMed: PMID:22289416

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33772017C>T , CM000681.2:g.33772017C>T	GRCh38
NC_000019.9:g.34262922C>T , CM000681.1:g.34262922C>T	GRCh37
NC_000019.8:g.38954762C>T	NCBI36
NG_029857.1:g.155062C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650847.1:c.229C>T MANE Select	ENSP00000499084.1:p.Arg77Trp
ENST00000262622.4:c.229C>T	ENSP00000262622.3:p.Arg77Trp
ENST00000434302.5:c.229C>T	ENSP00000392604.1:p.Arg77Trp
ENST00000438847.7:c.229C>T	ENSP00000393879.1:p.Arg77Trp
ENST00000591231.5:c.229C>T	ENSP00000467012.1:p.Arg77Trp
NM_001127895.1:c.229C>T	NP_001121367.1:p.Arg77Trp
NM_001127896.1:c.229C>T	NP_001121368.1:p.Arg77Trp
NM_022467.3:c.229C>T	NP_071912.2:p.Arg77Trp
XM_011527220.1:c.229C>T	XP_011525522.1:p.Arg77Trp
XM_011527221.1:c.229C>T	XP_011525523.1:p.Arg77Trp
XM_011527222.1:c.229C>T	XP_011525524.1:p.Arg77Trp
XM_011527223.1:c.229C>T	XP_011525525.1:p.Arg77Trp
XM_011527224.1:c.229C>T	XP_011525526.1:p.Arg77Trp
XM_011527225.1:c.229C>T	XP_011525527.1:p.Arg77Trp
XM_011527226.1:c.229C>T	XP_011525528.1:p.Arg77Trp
XM_017027143.1:c.229C>T	XP_016882632.1:p.Arg77Trp
NM_001127895.2:c.229C>T MANE Select	NP_001121367.1:p.Arg77Trp
NM_001127896.2:c.229C>T	NP_001121368.1:p.Arg77Trp