Canonical Allele Identifier: CA369653171

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1505353
• ClinVar RCV Id: RCV002004018
• dbSNP Id: rs2116397538
• MyVariant Identifiers: chr7:g.143047683T>C (hg19) ; chr7:g.143350590T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2531T>C	ENSP00000498052.2:p.Leu844Pro
ENST00000343257.7:c.2531T>C MANE Select	ENSP00000339867.2:p.Leu844Pro
ENST00000432192.6:c.2355T>C
ENST00000343257.6:c.2531T>C	ENSP00000339867.2:p.Leu844Pro
NM_000083.2:c.2531T>C	NP_000074.2:p.Leu844Pro
NR_046453.1:n.2471T>C
XM_011515781.1:c.2555T>C	XP_011514083.1:p.Leu852Pro
XM_011515782.1:c.1277T>C	XP_011514084.1:p.Leu426Pro
XM_011515782.2:c.1277T>C	XP_011514084.1:p.Leu426Pro
XM_017011739.1:c.2105T>C	XP_016867228.1:p.Leu702Pro
XM_017011740.1:c.2081T>C	XP_016867229.1:p.Leu694Pro
NM_000083.3:c.2531T>C MANE Select	NP_000074.3:p.Leu844Pro
NR_046453.2:n.2486T>C