Canonical Allele Identifier: CA232472840
Gene: CLSTN3 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.7135836A>C
GRCh37 chr12:g.7288432A>C
Revel Score:
ENST00000266546 (MANE Select) 0.176
ENST00000537408 0.176
gnomAD v2:
12:7288432 A / C
gnomAD v3:
12:7135836 A / C
gnomAD v4:
chr12-7135836-A-C
Joint Max Group AF 0.00001747 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
dbSNP:
7302230
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7135836A>C , CM000674.2:g.7135836A>C GRCh38
NC_000012.11:g.7288432A>C , CM000674.1:g.7288432A>C GRCh37
NC_000012.10:g.7179699A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266546.11:c.625A>C MANE Select ENSP00000266546.6:p.Ser209Arg
ENST00000266546.10:c.625A>C ENSP00000266546.6:p.Ser209Arg
ENST00000537408.1:c.661A>C ENSP00000440679.1:p.Ser221Arg
ENST00000540931.1:n.120A>C
ENST00000541667.5:n.352A>C
NM_014718.3:c.625A>C NP_055533.2:p.Ser209Arg
XM_006719163.2:c.661A>C XP_006719226.1:p.Ser221Arg
XM_006719163.4:c.661A>C XP_006719226.1:p.Ser221Arg
NM_014718.4:c.625A>C MANE Select NP_055533.2:p.Ser209Arg
Search 100 bp 5'
Search 100 bp 3'