Canonical Allele Identifier: CA4537594

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 359121
• ClinVar RCV Id: RCV000279484 ; RCV000518175 ; RCV000638263 ; RCV001712348
• dbSNP Id: rs149316679
• ExAC: 7:143043290 C / A
• gnomAD v2: 7-143043290-C-A
• gnomAD v3: 7-143346197-C-A
• gnomAD v4: 7-143346197-C-A
• MyVariant Identifiers: chr7:g.143043290C>A (hg19) ; chr7:g.143346197C>A (hg38)
• PubMed: PMID:22649220

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346197C>A , CM000669.2:g.143346197C>A	GRCh38
NC_000007.13:g.143043290C>A , CM000669.1:g.143043290C>A	GRCh37
NC_000007.12:g.142753412C>A	NCBI36
NG_009815.1:g.35072C>A
NG_009815.2:g.35072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2230C>A	ENSP00000498052.2:p.Pro744Thr
ENST00000343257.7:c.2230C>A MANE Select	ENSP00000339867.2:p.Pro744Thr
ENST00000432192.6:c.2054C>A
ENST00000343257.6:c.2230C>A	ENSP00000339867.2:p.Pro744Thr
NM_000083.2:c.2230C>A	NP_000074.2:p.Pro744Thr
NR_046453.1:n.2170C>A
XM_011515781.1:c.2254C>A	XP_011514083.1:p.Pro752Thr
XM_011515782.1:c.976C>A	XP_011514084.1:p.Pro326Thr
XM_011515782.2:c.976C>A	XP_011514084.1:p.Pro326Thr
XM_017011739.1:c.1804C>A	XP_016867228.1:p.Pro602Thr
XM_017011740.1:c.1780C>A	XP_016867229.1:p.Pro594Thr
NM_000083.3:c.2230C>A MANE Select	NP_000074.3:p.Pro744Thr
NR_046453.2:n.2185C>A