Canonical Allele Identifier: CA347374

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 208083
• ClinVar RCV Id: RCV000193137 ; RCV000518351 ; RCV000701519 ; RCV003313944
• dbSNP Id: rs774843953
• ExAC: 7:143029848 T / C
• gnomAD v2: 7-143029848-T-C
• gnomAD v4: 7-143332755-T-C
• MyVariant Identifiers: chr7:g.143029848T>C (hg19) ; chr7:g.143332755T>C (hg38)
• PubMed: PMID:9040658 ; PMID:12390967 ; PMID:15786415 ; PMID:20301529

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332755T>C , CM000669.2:g.143332755T>C	GRCh38
NC_000007.13:g.143029848T>C , CM000669.1:g.143029848T>C	GRCh37
NC_000007.12:g.142739970T>C	NCBI36
NG_009815.1:g.21630T>C
NG_009815.2:g.21630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1283T>C	ENSP00000498052.2:p.Phe428Ser
ENST00000343257.7:c.1283T>C MANE Select	ENSP00000339867.2:p.Phe428Ser
ENST00000432192.6:c.1107T>C
ENST00000343257.6:c.1283T>C	ENSP00000339867.2:p.Phe428Ser
NM_000083.2:c.1283T>C	NP_000074.2:p.Phe428Ser
NR_046453.1:n.1341+252T>C
XM_011515781.1:c.1307T>C	XP_011514083.1:p.Phe436Ser
XM_011515782.1:c.29T>C	XP_011514084.1:p.Phe10Ser
XM_011515782.2:c.29T>C	XP_011514084.1:p.Phe10Ser
XM_017011739.1:c.857T>C	XP_016867228.1:p.Phe286Ser
XM_017011740.1:c.833T>C	XP_016867229.1:p.Phe278Ser
NM_000083.3:c.1283T>C MANE Select	NP_000074.3:p.Phe428Ser
NR_046453.2:n.1356+252T>C