Canonical Allele Identifier: CA4537811

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2923627
• ClinVar RCV Id: RCV003783185
• dbSNP Id: rs138115069
• ExAC: 7:143048987 C / T
• gnomAD v2: 7-143048987-C-T
• gnomAD v3: 7-143351894-C-T
• gnomAD v4: 7-143351894-C-T
• MyVariant Identifiers: chr7:g.143048987C>T (hg19) ; chr7:g.143351894C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351894C>T , CM000669.2:g.143351894C>T	GRCh38
NC_000007.13:g.143048987C>T , CM000669.1:g.143048987C>T	GRCh37
NC_000007.12:g.142759109C>T	NCBI36
NG_009815.1:g.40769C>T
NG_009815.2:g.40769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2896C>T	ENSP00000498052.2:p.Leu966=
ENST00000343257.7:c.2896C>T MANE Select	ENSP00000339867.2:p.Leu966=
ENST00000343257.6:c.2896C>T	ENSP00000339867.2:p.Leu966=
NM_000083.2:c.2896C>T	NP_000074.2:p.Leu966=
NR_046453.1:n.2836C>T
XM_011515781.1:c.2920C>T	XP_011514083.1:p.Leu974=
XM_011515782.1:c.1642C>T	XP_011514084.1:p.Leu548=
XM_011515782.2:c.1642C>T	XP_011514084.1:p.Leu548=
XM_017011739.1:c.2470C>T	XP_016867228.1:p.Leu824=
XM_017011740.1:c.2446C>T	XP_016867229.1:p.Leu816=
NM_000083.3:c.2896C>T MANE Select	NP_000074.3:p.Leu966=
NR_046453.2:n.2851C>T