Canonical Allele Identifier: CA4537758

Gene: CLCN1

Linked Data

• dbSNP Id: rs753106925
• ExAC: 7:143048733 G / A
• gnomAD v2: 7-143048733-G-A
• gnomAD v3: 7-143351640-G-A
• gnomAD v4: 7-143351640-G-A
• COSMIC: COSM2151917
• MyVariant Identifiers: chr7:g.143048733G>A (hg19) ; chr7:g.143351640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351640G>A , CM000669.2:g.143351640G>A	GRCh38
NC_000007.13:g.143048733G>A , CM000669.1:g.143048733G>A	GRCh37
NC_000007.12:g.142758855G>A	NCBI36
NG_009815.1:g.40515G>A
NG_009815.2:g.40515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2642G>A	ENSP00000498052.2:p.Arg881His
ENST00000343257.7:c.2642G>A MANE Select	ENSP00000339867.2:p.Arg881His
ENST00000432192.6:c.2466G>A
ENST00000343257.6:c.2642G>A	ENSP00000339867.2:p.Arg881His
NM_000083.2:c.2642G>A	NP_000074.2:p.Arg881His
NR_046453.1:n.2582G>A
XM_011515781.1:c.2666G>A	XP_011514083.1:p.Arg889His
XM_011515782.1:c.1388G>A	XP_011514084.1:p.Arg463His
XM_011515782.2:c.1388G>A	XP_011514084.1:p.Arg463His
XM_017011739.1:c.2216G>A	XP_016867228.1:p.Arg739His
XM_017011740.1:c.2192G>A	XP_016867229.1:p.Arg731His
NM_000083.3:c.2642G>A MANE Select	NP_000074.3:p.Arg881His
NR_046453.2:n.2597G>A