Canonical Allele Identifier: CA369652468

Gene: CLCN1

Linked Data

• dbSNP Id: rs1469873859
• gnomAD v2: 7-143047468-G-A
• gnomAD v4: 7-143350375-G-A
• MyVariant Identifiers: chr7:g.143047468G>A (hg19) ; chr7:g.143350375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350375G>A , CM000669.2:g.143350375G>A	GRCh38
NC_000007.13:g.143047468G>A , CM000669.1:g.143047468G>A	GRCh37
NC_000007.12:g.142757590G>A	NCBI36
NG_009815.1:g.39250G>A
NG_009815.2:g.39250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2407G>A	ENSP00000498052.2:p.Glu803Lys
ENST00000343257.7:c.2407G>A MANE Select	ENSP00000339867.2:p.Glu803Lys
ENST00000432192.6:c.2231G>A
ENST00000343257.6:c.2407G>A	ENSP00000339867.2:p.Glu803Lys
NM_000083.2:c.2407G>A	NP_000074.2:p.Glu803Lys
NR_046453.1:n.2347G>A
XM_011515781.1:c.2431G>A	XP_011514083.1:p.Glu811Lys
XM_011515782.1:c.1153G>A	XP_011514084.1:p.Glu385Lys
XM_011515782.2:c.1153G>A	XP_011514084.1:p.Glu385Lys
XM_017011739.1:c.1981G>A	XP_016867228.1:p.Glu661Lys
XM_017011740.1:c.1957G>A	XP_016867229.1:p.Glu653Lys
NM_000083.3:c.2407G>A MANE Select	NP_000074.3:p.Glu803Lys
NR_046453.2:n.2362G>A