Canonical Allele Identifier: CA369684423

Gene: CLCN1

Linked Data

• dbSNP Id: rs1347382107
• MyVariant Identifiers: chr7:g.143018838T>G (hg19) ; chr7:g.143321745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321745T>G , CM000669.2:g.143321745T>G	GRCh38
NC_000007.13:g.143018838T>G , CM000669.1:g.143018838T>G	GRCh37
NC_000007.12:g.142728960T>G	NCBI36
NG_009815.1:g.10620T>G
NG_009815.2:g.10620T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.593T>G	ENSP00000498052.2:p.Leu198Arg
ENST00000343257.7:c.593T>G MANE Select	ENSP00000339867.2:p.Leu198Arg
ENST00000432192.6:c.361T>G
ENST00000455478.6:c.47T>G	ENSP00000400027.2:p.Leu16Arg
ENST00000650516.1:c.593T>G	ENSP00000498052.1:p.Leu198Arg
ENST00000343257.6:c.593T>G	ENSP00000339867.2:p.Leu198Arg
ENST00000432192.5:c.51T>G
ENST00000455478.5:c.51T>G
ENST00000495612.1:n.51T>G
NM_000083.2:c.593T>G	NP_000074.2:p.Leu198Arg
NR_046453.1:n.680T>G
XM_011515781.1:c.593T>G	XP_011514083.1:p.Leu198Arg
XM_017011739.1:c.300T>G	XP_016867228.1:p.Thr100=
XM_017011740.1:c.300T>G	XP_016867229.1:p.Thr100=
NM_000083.3:c.593T>G MANE Select	NP_000074.3:p.Leu198Arg
NR_046453.2:n.695T>G