Canonical Allele Identifier: CA276131

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 209139
• ClinVar RCV Id: RCV000191069 ; RCV000489144 ; RCV000530150 ; RCV000626583 ; RCV002288796
• dbSNP Id: rs797045032
• MyVariant Identifiers: chr7:g.143018813_143018814delinsTC (hg19) ; chr7:g.143321720_143321721delinsTC (hg38)
• PubMed: PMID:21221019 ; PMID:22521272 ; PMID:22921319 ; PMID:23933576 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321720_143321721delinsTC , CM000669.2:g.143321720_143321721delinsTC	GRCh38
NC_000007.13:g.143018813_143018814delinsTC , CM000669.1:g.143018813_143018814delinsTC	GRCh37
NC_000007.12:g.142728935_142728936delinsTC	NCBI36
NG_009815.1:g.10595_10596delinsTC
NG_009815.2:g.10595_10596delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.568_569delinsTC	ENSP00000498052.2:p.Gly190Ser
ENST00000343257.7:c.568_569delinsTC MANE Select	ENSP00000339867.2:p.Gly190Ser
ENST00000432192.6:c.336_337delinsTC
ENST00000455478.6:c.22_23delinsTC	ENSP00000400027.2:p.Gly8Ser
ENST00000650516.1:c.568_569delinsTC	ENSP00000498052.1:p.Gly190Ser
ENST00000343257.6:c.568_569delinsTC	ENSP00000339867.2:p.Gly190Ser
ENST00000432192.5:c.26_27delinsTC
ENST00000455478.5:c.26_27delinsTC
ENST00000495612.1:n.26_27delinsTC
NM_000083.2:c.568_569delinsTC	NP_000074.2:p.Gly190Ser
NR_046453.1:n.655_656delinsTC
XM_011515781.1:c.568_569delinsTC	XP_011514083.1:p.Gly190Ser
XM_017011739.1:c.275_276delinsTC	XP_016867228.1:p.Trp92Phe
XM_017011740.1:c.275_276delinsTC	XP_016867229.1:p.Trp92Phe
NM_000083.3:c.568_569delinsTC MANE Select	NP_000074.3:p.Gly190Ser
NR_046453.2:n.670_671delinsTC