Canonical Allele Identifier: CA4537763

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2558681
• ClinVar RCV Id: RCV003300420
• dbSNP Id: rs781320829
• ExAC: 7:143048753 C / T
• gnomAD v2: 7-143048753-C-T
• gnomAD v3: 7-143351660-C-T
• gnomAD v4: 7-143351660-C-T
• MyVariant Identifiers: chr7:g.143048753C>T (hg19) ; chr7:g.143351660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351660C>T , CM000669.2:g.143351660C>T	GRCh38
NC_000007.13:g.143048753C>T , CM000669.1:g.143048753C>T	GRCh37
NC_000007.12:g.142758875C>T	NCBI36
NG_009815.1:g.40535C>T
NG_009815.2:g.40535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2662C>T	ENSP00000498052.2:p.Arg888Trp
ENST00000343257.7:c.2662C>T MANE Select	ENSP00000339867.2:p.Arg888Trp
ENST00000432192.6:c.2486C>T
ENST00000343257.6:c.2662C>T	ENSP00000339867.2:p.Arg888Trp
NM_000083.2:c.2662C>T	NP_000074.2:p.Arg888Trp
NR_046453.1:n.2602C>T
XM_011515781.1:c.2686C>T	XP_011514083.1:p.Arg896Trp
XM_011515782.1:c.1408C>T	XP_011514084.1:p.Arg470Trp
XM_011515782.2:c.1408C>T	XP_011514084.1:p.Arg470Trp
XM_017011739.1:c.2236C>T	XP_016867228.1:p.Arg746Trp
XM_017011740.1:c.2212C>T	XP_016867229.1:p.Arg738Trp
NM_000083.3:c.2662C>T MANE Select	NP_000074.3:p.Arg888Trp
NR_046453.2:n.2617C>T