Canonical Allele Identifier: CA596938
Gene: CLCN6 HGNC NCBI
COSMIC:
COSN6504679 (not active)
COSN9457125 (not active)
MyVariant.info:
GRCh38 chr1:g.11838976G>T
GRCh37 chr1:g.11899033G>T
Revel Score:
ENST00000376496 0.101
gnomAD v2:
1:11899033 G / T
gnomAD v3:
1:11838976 G / T
gnomAD v4:
chr1-11838976-G-T
Joint Max Group AF 0.36712231 (SAS)
Genomes Max Group AF 0.34882709 (SAS)
Exomes Max Group AF 0.36759499 (SAS)
dbSNP:
1023252
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11838976G>T , CM000663.2:g.11838976G>T GRCh38
NC_000001.10:g.11899033G>T , CM000663.1:g.11899033G>T GRCh37
NC_000001.9:g.11821620G>T NCBI36
NG_008766.1:g.37827G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346436.11:c.2529+316G>T MANE Select ENSP00000234488.9:n.2529+316G>T
ENST00000400892.3:c.*1022+316G>T ENSP00000496938.1:n.*1022+316G>T
ENST00000312413.10:c.2463+316G>T ENSP00000308367.7:n.2463+316G>T
ENST00000346436.10:c.2529+316G>T ENSP00000234488.9:n.2529+316G>T
ENST00000376496.4:c.2845G>T ENSP00000365679.3:p.Asp949Tyr
NM_001256959.1:c.2463+316G>T NP_001243888.1:n.2463+316G>T
NM_001286.3:c.2529+316G>T NP_001277.1:n.2529+316G>T
NR_046428.1:n.2680+316G>T
NM_001286.4:c.2529+316G>T NP_001277.1:n.2529+316G>T
NM_001256959.2:c.2463+316G>T NP_001243888.2:n.2463+316G>T
NM_001286.5:c.2529+316G>T MANE Select NP_001277.2:n.2529+316G>T
NR_046428.2:n.2585+316G>T
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