Canonical Allele Identifier: CA578627101

Gene: CLCN1

Linked Data

• dbSNP Id: rs1472805680
• gnomAD v2: 7-143038974-C-A
• gnomAD v4: 7-143341881-C-A
• MyVariant Identifiers: chr7:g.143038974C>A (hg19) ; chr7:g.143341881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341881C>A , CM000669.2:g.143341881C>A	GRCh38
NC_000007.13:g.143038974C>A , CM000669.1:g.143038974C>A	GRCh37
NC_000007.12:g.142749096C>A	NCBI36
NG_009815.1:g.30756C>A
NG_009815.2:g.30756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-48C>A	ENSP00000498052.2:n.1583-48C>A
ENST00000343257.7:c.1583-48C>A MANE Select	ENSP00000339867.2:n.1583-48C>A
ENST00000432192.6:c.1407-48C>A
ENST00000343257.6:c.1583-48C>A	ENSP00000339867.2:n.1583-48C>A
NM_000083.2:c.1583-48C>A	NP_000074.2:n.1583-48C>A
NR_046453.1:n.1523-48C>A
XM_011515781.1:c.1607-48C>A	XP_011514083.1:n.1607-48C>A
XM_011515782.1:c.329-48C>A	XP_011514084.1:n.329-48C>A
XM_011515782.2:c.329-48C>A	XP_011514084.1:n.329-48C>A
XM_017011739.1:c.1157-48C>A	XP_016867228.1:n.1157-48C>A
XM_017011740.1:c.1133-48C>A	XP_016867229.1:n.1133-48C>A
NM_000083.3:c.1583-48C>A MANE Select	NP_000074.3:n.1583-48C>A
NR_046453.2:n.1538-48C>A