Canonical Allele Identifier: CA578444484

Gene: CLCN1

Linked Data

• dbSNP Id: rs1250239946
• gnomAD v2: 7-143018384-G-A
• gnomAD v3: 7-143321291-G-A
• gnomAD v4: 7-143321291-G-A
• MyVariant Identifiers: chr7:g.143018384G>A (hg19) ; chr7:g.143321291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321291G>A , CM000669.2:g.143321291G>A	GRCh38
NC_000007.13:g.143018384G>A , CM000669.1:g.143018384G>A	GRCh37
NC_000007.12:g.142728506G>A	NCBI36
NG_009815.1:g.10166G>A
NG_009815.2:g.10166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-74G>A	ENSP00000498052.2:n.434-74G>A
ENST00000343257.7:c.434-74G>A MANE Select	ENSP00000339867.2:n.434-74G>A
ENST00000432192.6:c.202-74G>A
ENST00000650516.1:c.434-74G>A	ENSP00000498052.1:n.434-74G>A
ENST00000343257.6:c.434-74G>A	ENSP00000339867.2:n.434-74G>A
NM_000083.2:c.434-74G>A	NP_000074.2:n.434-74G>A
NR_046453.1:n.521-74G>A
XM_011515781.1:c.434-74G>A	XP_011514083.1:n.434-74G>A
XM_017011739.1:c.141-74G>A	XP_016867228.1:n.141-74G>A
XM_017011740.1:c.141-74G>A	XP_016867229.1:n.141-74G>A
NM_000083.3:c.434-74G>A MANE Select	NP_000074.3:n.434-74G>A
NR_046453.2:n.536-74G>A