Canonical Allele Identifier: CA4537377

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 280101
• ClinVar RCV Id: RCV000342021 ; RCV000638257 ; RCV000778823 ; RCV001252999 ; RCV001589311
• dbSNP Id: rs146457619
• ExAC: 7:143036397 A / G
• gnomAD v2: 7-143036397-A-G
• gnomAD v3: 7-143339304-A-G
• gnomAD v4: 7-143339304-A-G
• MyVariant Identifiers: chr7:g.143036397A>G (hg19) ; chr7:g.143339304A>G (hg38)
• PubMed: PMID:8533761 ; PMID:9158157 ; PMID:9736777 ; PMID:17932099 ; PMID:24349310 ; PMID:24920213 ; PMID:25088311

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339304A>G , CM000669.2:g.143339304A>G	GRCh38
NC_000007.13:g.143036397A>G , CM000669.1:g.143036397A>G	GRCh37
NC_000007.12:g.142746519A>G	NCBI36
NG_009815.1:g.28179A>G
NG_009815.2:g.28179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1453A>G	ENSP00000498052.2:p.Met485Val
ENST00000343257.7:c.1453A>G MANE Select	ENSP00000339867.2:p.Met485Val
ENST00000432192.6:c.1277A>G
ENST00000343257.6:c.1453A>G	ENSP00000339867.2:p.Met485Val
NM_000083.2:c.1453A>G	NP_000074.2:p.Met485Val
NR_046453.1:n.1393A>G
XM_011515781.1:c.1477A>G	XP_011514083.1:p.Met493Val
XM_011515782.1:c.199A>G	XP_011514084.1:p.Met67Val
XM_011515782.2:c.199A>G	XP_011514084.1:p.Met67Val
XM_017011739.1:c.1027A>G	XP_016867228.1:p.Met343Val
XM_017011740.1:c.1003A>G	XP_016867229.1:p.Met335Val
NM_000083.3:c.1453A>G MANE Select	NP_000074.3:p.Met485Val
NR_046453.2:n.1408A>G