Canonical Allele Identifier: CA338425677

Gene: CLCN6

Linked Data

• MyVariant Identifiers: chr1:g.11876676G>A (hg19) ; chr1:g.11816619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816619G>A , CM000663.2:g.11816619G>A	GRCh38
NC_000001.10:g.11876676G>A , CM000663.1:g.11876676G>A	GRCh37
NC_000001.9:g.11799263G>A	NCBI36
NG_008766.1:g.15470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.218G>A MANE Select	ENSP00000234488.9:p.Gly73Asp
ENST00000400892.3:c.218G>A	ENSP00000496938.1:p.Gly73Asp
ENST00000312413.10:c.152G>A	ENSP00000308367.7:p.Gly51Asp
ENST00000346436.10:c.218G>A	ENSP00000234488.9:p.Gly73Asp
ENST00000376490.7:n.218G>A
ENST00000376491.7:n.218G>A
ENST00000376492.3:n.218G>A
ENST00000376496.4:c.218G>A	ENSP00000365679.3:p.Gly73Asp
ENST00000376497.7:c.218G>A	ENSP00000365680.3:p.Gly73Asp
NM_001256959.1:c.152G>A	NP_001243888.1:p.Gly51Asp
NM_001286.3:c.218G>A	NP_001277.1:p.Gly73Asp
NR_046428.1:n.385G>A
NM_001286.4:c.218G>A	NP_001277.1:p.Gly73Asp
NM_001256959.2:c.152G>A	NP_001243888.2:p.Gly51Asp
NM_001286.5:c.218G>A MANE Select	NP_001277.2:p.Gly73Asp
NR_046428.2:n.290G>A