Canonical Allele Identifier: CA4536956

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2085608
• ClinVar RCV Id: RCV002996360
• dbSNP Id: rs764015801
• ExAC: 7:143018463 A / C
• gnomAD v2: 7-143018463-A-C
• gnomAD v4: 7-143321370-A-C
• MyVariant Identifiers: chr7:g.143018463A>C (hg19) ; chr7:g.143321370A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321370A>C , CM000669.2:g.143321370A>C	GRCh38
NC_000007.13:g.143018463A>C , CM000669.1:g.143018463A>C	GRCh37
NC_000007.12:g.142728585A>C	NCBI36
NG_009815.1:g.10245A>C
NG_009815.2:g.10245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.439A>C	ENSP00000498052.2:p.Lys147Gln
ENST00000343257.7:c.439A>C MANE Select	ENSP00000339867.2:p.Lys147Gln
ENST00000432192.6:c.207A>C
ENST00000650516.1:c.439A>C	ENSP00000498052.1:p.Lys147Gln
ENST00000343257.6:c.439A>C	ENSP00000339867.2:p.Lys147Gln
NM_000083.2:c.439A>C	NP_000074.2:p.Lys147Gln
NR_046453.1:n.526A>C
XM_011515781.1:c.439A>C	XP_011514083.1:p.Lys147Gln
XM_017011739.1:c.146A>C	XP_016867228.1:p.Gln49Pro
XM_017011740.1:c.146A>C	XP_016867229.1:p.Gln49Pro
NM_000083.3:c.439A>C MANE Select	NP_000074.3:p.Lys147Gln
NR_046453.2:n.541A>C