Canonical Allele Identifier: CA168214372

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1410177
• ClinVar RCV Id: RCV001927988
• dbSNP Id: rs1001314584
• MyVariant Identifiers: chr7:g.143029851A>G (hg19) ; chr7:g.143332758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332758A>G , CM000669.2:g.143332758A>G	GRCh38
NC_000007.13:g.143029851A>G , CM000669.1:g.143029851A>G	GRCh37
NC_000007.12:g.142739973A>G	NCBI36
NG_009815.1:g.21633A>G
NG_009815.2:g.21633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1286A>G	ENSP00000498052.2:p.Asp429Gly
ENST00000343257.7:c.1286A>G MANE Select	ENSP00000339867.2:p.Asp429Gly
ENST00000432192.6:c.1110A>G
ENST00000343257.6:c.1286A>G	ENSP00000339867.2:p.Asp429Gly
NM_000083.2:c.1286A>G	NP_000074.2:p.Asp429Gly
NR_046453.1:n.1341+255A>G
XM_011515781.1:c.1310A>G	XP_011514083.1:p.Asp437Gly
XM_011515782.1:c.32A>G	XP_011514084.1:p.Asp11Gly
XM_011515782.2:c.32A>G	XP_011514084.1:p.Asp11Gly
XM_017011739.1:c.860A>G	XP_016867228.1:p.Asp287Gly
XM_017011740.1:c.836A>G	XP_016867229.1:p.Asp279Gly
NM_000083.3:c.1286A>G MANE Select	NP_000074.3:p.Asp429Gly
NR_046453.2:n.1356+255A>G