Canonical Allele Identifier: CA341557

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 21050
• ClinVar RCV Id: RCV000020118 ; RCV000477848 ; RCV000483128 ; RCV002243656 ; RCV004541011
• dbSNP Id: rs80356701
• ExAC: 7:143027931 T / C
• gnomAD v2: 7-143027931-T-C
• gnomAD v3: 7-143330838-T-C
• gnomAD v4: 7-143330838-T-C
• MyVariant Identifiers: chr7:g.143027931T>C (hg19) ; chr7:g.143330838T>C (hg38)
• PubMed: PMID:9736777 ; PMID:11408615 ; PMID:11840191 ; PMID:17932099 ; PMID:20301529 ; PMID:23516313

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330838T>C , CM000669.2:g.143330838T>C	GRCh38
NC_000007.13:g.143027931T>C , CM000669.1:g.143027931T>C	GRCh37
NC_000007.12:g.142738053T>C	NCBI36
NG_009815.1:g.19713T>C
NG_009815.2:g.19713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.920T>C	ENSP00000498052.2:p.Phe307Ser
ENST00000343257.7:c.920T>C MANE Select	ENSP00000339867.2:p.Phe307Ser
ENST00000432192.6:c.744T>C
ENST00000455478.6:c.508T>C	ENSP00000400027.2:n.508T>C
ENST00000650516.1:c.920T>C	ENSP00000498052.1:p.Phe307Ser
ENST00000343257.6:c.920T>C	ENSP00000339867.2:p.Phe307Ser
ENST00000432192.5:c.434T>C
ENST00000455478.5:c.512T>C
ENST00000495612.1:n.221T>C
NM_000083.2:c.920T>C	NP_000074.2:p.Phe307Ser
NR_046453.1:n.1010T>C
XM_011515781.1:c.920T>C	XP_011514083.1:p.Phe307Ser
XM_017011739.1:c.470T>C	XP_016867228.1:p.Phe157Ser
XM_017011740.1:c.470T>C	XP_016867229.1:p.Phe157Ser
NM_000083.3:c.920T>C MANE Select	NP_000074.3:p.Phe307Ser
NR_046453.2:n.1025T>C