Canonical Allele Identifier: CA4537444

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 844401
• ClinVar RCV Id: RCV001047235 ; RCV003323787
• dbSNP Id: rs778647317
• ExAC: 7:143039089 G / A
• gnomAD v2: 7-143039089-G-A
• gnomAD v3: 7-143341996-G-A
• gnomAD v4: 7-143341996-G-A
• MyVariant Identifiers: chr7:g.143039089G>A (hg19) ; chr7:g.143341996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341996G>A , CM000669.2:g.143341996G>A	GRCh38
NC_000007.13:g.143039089G>A , CM000669.1:g.143039089G>A	GRCh37
NC_000007.12:g.142749211G>A	NCBI36
NG_009815.1:g.30871G>A
NG_009815.2:g.30871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1650G>A	ENSP00000498052.2:p.Thr550=
ENST00000343257.7:c.1650G>A MANE Select	ENSP00000339867.2:p.Thr550=
ENST00000432192.6:c.1474G>A
ENST00000343257.6:c.1650G>A	ENSP00000339867.2:p.Thr550=
NM_000083.2:c.1650G>A	NP_000074.2:p.Thr550=
NR_046453.1:n.1590G>A
XM_011515781.1:c.1674G>A	XP_011514083.1:p.Thr558=
XM_011515782.1:c.396G>A	XP_011514084.1:p.Thr132=
XM_011515782.2:c.396G>A	XP_011514084.1:p.Thr132=
XM_017011739.1:c.1224G>A	XP_016867228.1:p.Thr408=
XM_017011740.1:c.1200G>A	XP_016867229.1:p.Thr400=
NM_000083.3:c.1650G>A MANE Select	NP_000074.3:p.Thr550=
NR_046453.2:n.1605G>A