Canonical Allele Identifier: CA369654274

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351936-G-C
• MyVariant Identifiers: chr7:g.143049029G>C (hg19) ; chr7:g.143351936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351936G>C , CM000669.2:g.143351936G>C	GRCh38
NC_000007.13:g.143049029G>C , CM000669.1:g.143049029G>C	GRCh37
NC_000007.12:g.142759151G>C	NCBI36
NG_009815.1:g.40811G>C
NG_009815.2:g.40811G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2938G>C	ENSP00000498052.2:p.Glu980Gln
ENST00000343257.7:c.2938G>C MANE Select	ENSP00000339867.2:p.Glu980Gln
ENST00000343257.6:c.2938G>C	ENSP00000339867.2:p.Glu980Gln
NM_000083.2:c.2938G>C	NP_000074.2:p.Glu980Gln
NR_046453.1:n.2878G>C
XM_011515781.1:c.2962G>C	XP_011514083.1:p.Glu988Gln
XM_011515782.1:c.1684G>C	XP_011514084.1:p.Glu562Gln
XM_011515782.2:c.1684G>C	XP_011514084.1:p.Glu562Gln
XM_017011739.1:c.2512G>C	XP_016867228.1:p.Glu838Gln
XM_017011740.1:c.2488G>C	XP_016867229.1:p.Glu830Gln
NM_000083.3:c.2938G>C MANE Select	NP_000074.3:p.Glu980Gln
NR_046453.2:n.2893G>C