Canonical Allele Identifier: CA369653172

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143047683T>G (hg19) ; chr7:g.143350590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350590T>G , CM000669.2:g.143350590T>G	GRCh38
NC_000007.13:g.143047683T>G , CM000669.1:g.143047683T>G	GRCh37
NC_000007.12:g.142757805T>G	NCBI36
NG_009815.1:g.39465T>G
NG_009815.2:g.39465T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2531T>G	ENSP00000498052.2:p.Leu844Arg
ENST00000343257.7:c.2531T>G MANE Select	ENSP00000339867.2:p.Leu844Arg
ENST00000432192.6:c.2355T>G
ENST00000343257.6:c.2531T>G	ENSP00000339867.2:p.Leu844Arg
NM_000083.2:c.2531T>G	NP_000074.2:p.Leu844Arg
NR_046453.1:n.2471T>G
XM_011515781.1:c.2555T>G	XP_011514083.1:p.Leu852Arg
XM_011515782.1:c.1277T>G	XP_011514084.1:p.Leu426Arg
XM_011515782.2:c.1277T>G	XP_011514084.1:p.Leu426Arg
XM_017011739.1:c.2105T>G	XP_016867228.1:p.Leu702Arg
XM_017011740.1:c.2081T>G	XP_016867229.1:p.Leu694Arg
NM_000083.3:c.2531T>G MANE Select	NP_000074.3:p.Leu844Arg
NR_046453.2:n.2486T>G