Canonical Allele Identifier: CA369646651

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1299098
• ClinVar RCV Id: RCV001727428
• dbSNP Id: rs2116373216
• MyVariant Identifiers: chr7:g.143039169T>G (hg19) ; chr7:g.143342076T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342076T>G , CM000669.2:g.143342076T>G	GRCh38
NC_000007.13:g.143039169T>G , CM000669.1:g.143039169T>G	GRCh37
NC_000007.12:g.142749291T>G	NCBI36
NG_009815.1:g.30951T>G
NG_009815.2:g.30951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1730T>G	ENSP00000498052.2:p.Leu577Arg
ENST00000343257.7:c.1730T>G MANE Select	ENSP00000339867.2:p.Leu577Arg
ENST00000432192.6:c.1554T>G
ENST00000343257.6:c.1730T>G	ENSP00000339867.2:p.Leu577Arg
NM_000083.2:c.1730T>G	NP_000074.2:p.Leu577Arg
NR_046453.1:n.1670T>G
XM_011515781.1:c.1754T>G	XP_011514083.1:p.Leu585Arg
XM_011515782.1:c.476T>G	XP_011514084.1:p.Leu159Arg
XM_011515782.2:c.476T>G	XP_011514084.1:p.Leu159Arg
XM_017011739.1:c.1304T>G	XP_016867228.1:p.Leu435Arg
XM_017011740.1:c.1280T>G	XP_016867229.1:p.Leu427Arg
NM_000083.3:c.1730T>G MANE Select	NP_000074.3:p.Leu577Arg
NR_046453.2:n.1685T>G