Canonical Allele Identifier: CA369654144

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 574516
• ClinVar RCV Id: RCV000696470
• dbSNP Id: rs748630375
• gnomAD v4: 7-143351900-G-C
• MyVariant Identifiers: chr7:g.143048993G>C (hg19) ; chr7:g.143351900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351900G>C , CM000669.2:g.143351900G>C	GRCh38
NC_000007.13:g.143048993G>C , CM000669.1:g.143048993G>C	GRCh37
NC_000007.12:g.142759115G>C	NCBI36
NG_009815.1:g.40775G>C
NG_009815.2:g.40775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2902G>C	ENSP00000498052.2:p.Asp968His
ENST00000343257.7:c.2902G>C MANE Select	ENSP00000339867.2:p.Asp968His
ENST00000343257.6:c.2902G>C	ENSP00000339867.2:p.Asp968His
NM_000083.2:c.2902G>C	NP_000074.2:p.Asp968His
NR_046453.1:n.2842G>C
XM_011515781.1:c.2926G>C	XP_011514083.1:p.Asp976His
XM_011515782.1:c.1648G>C	XP_011514084.1:p.Asp550His
XM_011515782.2:c.1648G>C	XP_011514084.1:p.Asp550His
XM_017011739.1:c.2476G>C	XP_016867228.1:p.Asp826His
XM_017011740.1:c.2452G>C	XP_016867229.1:p.Asp818His
NM_000083.3:c.2902G>C MANE Select	NP_000074.3:p.Asp968His
NR_046453.2:n.2857G>C