Canonical Allele Identifier: CA4537813

Gene: CLCN1

Linked Data

• dbSNP Id: rs748630375
• ExAC: 7:143048993 G / A
• gnomAD v2: 7-143048993-G-A
• gnomAD v3: 7-143351900-G-A
• gnomAD v4: 7-143351900-G-A
• MyVariant Identifiers: chr7:g.143048993G>A (hg19) ; chr7:g.143351900G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2902G>A	ENSP00000498052.2:p.Asp968Asn
ENST00000343257.7:c.2902G>A MANE Select	ENSP00000339867.2:p.Asp968Asn
ENST00000343257.6:c.2902G>A	ENSP00000339867.2:p.Asp968Asn
NM_000083.2:c.2902G>A	NP_000074.2:p.Asp968Asn
NR_046453.1:n.2842G>A
XM_011515781.1:c.2926G>A	XP_011514083.1:p.Asp976Asn
XM_011515782.1:c.1648G>A	XP_011514084.1:p.Asp550Asn
XM_011515782.2:c.1648G>A	XP_011514084.1:p.Asp550Asn
XM_017011739.1:c.2476G>A	XP_016867228.1:p.Asp826Asn
XM_017011740.1:c.2452G>A	XP_016867229.1:p.Asp818Asn
NM_000083.3:c.2902G>A MANE Select	NP_000074.3:p.Asp968Asn
NR_046453.2:n.2857G>A