Canonical Allele Identifier: CA338425667

Gene: CLCN6

Linked Data

• MyVariant Identifiers: chr1:g.11876673A>C (hg19) ; chr1:g.11816616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816616A>C , CM000663.2:g.11816616A>C	GRCh38
NC_000001.10:g.11876673A>C , CM000663.1:g.11876673A>C	GRCh37
NC_000001.9:g.11799260A>C	NCBI36
NG_008766.1:g.15467A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.215A>C MANE Select	ENSP00000234488.9:p.Lys72Thr
ENST00000400892.3:c.215A>C	ENSP00000496938.1:p.Lys72Thr
ENST00000312413.10:c.149A>C	ENSP00000308367.7:p.Lys50Thr
ENST00000346436.10:c.215A>C	ENSP00000234488.9:p.Lys72Thr
ENST00000376490.7:n.215A>C
ENST00000376491.7:n.215A>C
ENST00000376492.3:n.215A>C
ENST00000376496.4:c.215A>C	ENSP00000365679.3:p.Lys72Thr
ENST00000376497.7:c.215A>C	ENSP00000365680.3:p.Lys72Thr
NM_001256959.1:c.149A>C	NP_001243888.1:p.Lys50Thr
NM_001286.3:c.215A>C	NP_001277.1:p.Lys72Thr
NR_046428.1:n.382A>C
NM_001286.4:c.215A>C	NP_001277.1:p.Lys72Thr
NM_001256959.2:c.149A>C	NP_001243888.2:p.Lys50Thr
NM_001286.5:c.215A>C MANE Select	NP_001277.2:p.Lys72Thr
NR_046428.2:n.287A>C