Canonical Allele Identifier: CA4537011

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 583185
• ClinVar RCV Id: RCV000707456
• dbSNP Id: rs143506735
• ExAC: 7:143018840 C / T
• gnomAD v2: 7-143018840-C-T
• gnomAD v3: 7-143321747-C-T
• gnomAD v4: 7-143321747-C-T
• COSMIC: COSM1201276
• MyVariant Identifiers: chr7:g.143018840C>T (hg19) ; chr7:g.143321747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321747C>T , CM000669.2:g.143321747C>T	GRCh38
NC_000007.13:g.143018840C>T , CM000669.1:g.143018840C>T	GRCh37
NC_000007.12:g.142728962C>T	NCBI36
NG_009815.1:g.10622C>T
NG_009815.2:g.10622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.595C>T	ENSP00000498052.2:p.Arg199Cys
ENST00000343257.7:c.595C>T MANE Select	ENSP00000339867.2:p.Arg199Cys
ENST00000432192.6:c.363C>T
ENST00000455478.6:c.49C>T	ENSP00000400027.2:p.Arg17Cys
ENST00000650516.1:c.595C>T	ENSP00000498052.1:p.Arg199Cys
ENST00000343257.6:c.595C>T	ENSP00000339867.2:p.Arg199Cys
ENST00000432192.5:c.53C>T
ENST00000455478.5:c.53C>T
ENST00000495612.1:n.53C>T
NM_000083.2:c.595C>T	NP_000074.2:p.Arg199Cys
NR_046453.1:n.682C>T
XM_011515781.1:c.595C>T	XP_011514083.1:p.Arg199Cys
XM_017011739.1:c.302C>T	XP_016867228.1:p.Ser101Leu
XM_017011740.1:c.302C>T	XP_016867229.1:p.Ser101Leu
NM_000083.3:c.595C>T MANE Select	NP_000074.3:p.Arg199Cys
NR_046453.2:n.697C>T