Canonical Allele Identifier: CA6756650
Gene: CHST11 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.104757456G>A
GRCh37 chr12:g.105151234G>A
Revel Score:
ENST00000549260 0.190
ENST00000303694 (MANE Select) 0.190
gnomAD v2:
12:105151234 G / A
gnomAD v3:
12:104757456 G / A
gnomAD v4:
chr12-104757456-G-A
Joint Max Group AF 0.00004285 (AMR)
Exomes Max Group AF 0.00005804 (AMR)
ClinVar RCV:
RCV004198092
ClinVar Variation:
2358221
dbSNP:
758294420
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.104757456G>A , CM000674.2:g.104757456G>A GRCh38
NC_000012.11:g.105151234G>A , CM000674.1:g.105151234G>A GRCh37
NC_000012.10:g.103675364G>A NCBI36
NG_029810.1:g.305543G>A
NG_029810.2:g.305543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303694.6:c.712G>A MANE Select ENSP00000305725.5:p.Glu238Lys
ENST00000303694.5:c.712G>A ENSP00000305725.5:p.Glu238Lys
ENST00000549260.5:c.697G>A ENSP00000450004.1:p.Glu233Lys
NM_001173982.1:c.697G>A NP_001167453.1:p.Glu233Lys
NM_018413.5:c.712G>A NP_060883.1:p.Glu238Lys
XM_017019369.1:c.781G>A XP_016874858.1:p.Glu261Lys
NM_018413.6:c.712G>A MANE Select NP_060883.1:p.Glu238Lys
NM_001173982.2:c.697G>A NP_001167453.1:p.Glu233Lys
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