Canonical Allele Identifier: CA834515329

Gene: CLCN1

Linked Data

• dbSNP Id: rs1372492554
• gnomAD v3: 7-143339428-G-A
• gnomAD v4: 7-143339428-G-A
• MyVariant Identifiers: chr7:g.143036521G>A (hg19) ; chr7:g.143339428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339428G>A , CM000669.2:g.143339428G>A	GRCh38
NC_000007.13:g.143036521G>A , CM000669.1:g.143036521G>A	GRCh37
NC_000007.12:g.142746643G>A	NCBI36
NG_009815.1:g.28303G>A
NG_009815.2:g.28303G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1472-83G>A	ENSP00000498052.2:n.1472-83G>A
ENST00000343257.7:c.1472-83G>A MANE Select	ENSP00000339867.2:n.1472-83G>A
ENST00000432192.6:c.1296-83G>A
ENST00000343257.6:c.1472-83G>A	ENSP00000339867.2:n.1472-83G>A
NM_000083.2:c.1472-83G>A	NP_000074.2:n.1472-83G>A
NR_046453.1:n.1412-83G>A
XM_011515781.1:c.1496-83G>A	XP_011514083.1:n.1496-83G>A
XM_011515782.1:c.218-83G>A	XP_011514084.1:n.218-83G>A
XM_011515782.2:c.218-83G>A	XP_011514084.1:n.218-83G>A
XM_017011739.1:c.1046-83G>A	XP_016867228.1:n.1046-83G>A
XM_017011740.1:c.1022-83G>A	XP_016867229.1:n.1022-83G>A
NM_000083.3:c.1472-83G>A MANE Select	NP_000074.3:n.1472-83G>A
NR_046453.2:n.1427-83G>A