Canonical Allele Identifier: CA521191043

Gene: CLCN6

Linked Data

• dbSNP Id: rs1156336481
• gnomAD v2: 1-11876472-T-A
• gnomAD v3: 1-11816415-T-A
• gnomAD v4: 1-11816415-T-A
• MyVariant Identifiers: chr1:g.11876472T>A (hg19) ; chr1:g.11816415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816415T>A , CM000663.2:g.11816415T>A	GRCh38
NC_000001.10:g.11876472T>A , CM000663.1:g.11876472T>A	GRCh37
NC_000001.9:g.11799059T>A	NCBI36
NG_008766.1:g.15266T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346436.11:c.214-200T>A MANE Select	ENSP00000234488.9:n.214-200T>A
ENST00000400892.3:c.214-200T>A	ENSP00000496938.1:n.214-200T>A
ENST00000312413.10:c.148-200T>A	ENSP00000308367.7:n.148-200T>A
ENST00000346436.10:c.214-200T>A	ENSP00000234488.9:n.214-200T>A
ENST00000376490.7:n.214-200T>A
ENST00000376491.7:n.214-200T>A
ENST00000376492.3:n.214-200T>A
ENST00000376496.4:c.214-200T>A	ENSP00000365679.3:n.214-200T>A
ENST00000376497.7:c.214-200T>A	ENSP00000365680.3:n.214-200T>A
NM_001256959.1:c.148-200T>A	NP_001243888.1:n.148-200T>A
NM_001286.3:c.214-200T>A	NP_001277.1:n.214-200T>A
NR_046428.1:n.381-200T>A
NM_001286.4:c.214-200T>A	NP_001277.1:n.214-200T>A
NM_001256959.2:c.148-200T>A	NP_001243888.2:n.148-200T>A
NM_001286.5:c.214-200T>A MANE Select	NP_001277.2:n.214-200T>A
NR_046428.2:n.286-200T>A