Canonical Allele Identifier: CA4537760

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 943263
• ClinVar RCV Id: RCV001213417
• dbSNP Id: rs764347321
• ExAC: 7:143048738 C / A
• gnomAD v2: 7-143048738-C-A
• gnomAD v4: 7-143351645-C-A
• MyVariant Identifiers: chr7:g.143048738C>A (hg19) ; chr7:g.143351645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351645C>A , CM000669.2:g.143351645C>A	GRCh38
NC_000007.13:g.143048738C>A , CM000669.1:g.143048738C>A	GRCh37
NC_000007.12:g.142758860C>A	NCBI36
NG_009815.1:g.40520C>A
NG_009815.2:g.40520C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2647C>A	ENSP00000498052.2:p.Pro883Thr
ENST00000343257.7:c.2647C>A MANE Select	ENSP00000339867.2:p.Pro883Thr
ENST00000432192.6:c.2471C>A
ENST00000343257.6:c.2647C>A	ENSP00000339867.2:p.Pro883Thr
NM_000083.2:c.2647C>A	NP_000074.2:p.Pro883Thr
NR_046453.1:n.2587C>A
XM_011515781.1:c.2671C>A	XP_011514083.1:p.Pro891Thr
XM_011515782.1:c.1393C>A	XP_011514084.1:p.Pro465Thr
XM_011515782.2:c.1393C>A	XP_011514084.1:p.Pro465Thr
XM_017011739.1:c.2221C>A	XP_016867228.1:p.Pro741Thr
XM_017011740.1:c.2197C>A	XP_016867229.1:p.Pro733Thr
NM_000083.3:c.2647C>A MANE Select	NP_000074.3:p.Pro883Thr
NR_046453.2:n.2602C>A