Canonical Allele Identifier: CA834515330

Gene: CLCN1

Linked Data

• dbSNP Id: rs1294798233
• gnomAD v3: 7-143339429-C-T
• gnomAD v4: 7-143339429-C-T
• MyVariant Identifiers: chr7:g.143036522C>T (hg19) ; chr7:g.143339429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339429C>T , CM000669.2:g.143339429C>T	GRCh38
NC_000007.13:g.143036522C>T , CM000669.1:g.143036522C>T	GRCh37
NC_000007.12:g.142746644C>T	NCBI36
NG_009815.1:g.28304C>T
NG_009815.2:g.28304C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1472-82C>T	ENSP00000498052.2:n.1472-82C>T
ENST00000343257.7:c.1472-82C>T MANE Select	ENSP00000339867.2:n.1472-82C>T
ENST00000432192.6:c.1296-82C>T
ENST00000343257.6:c.1472-82C>T	ENSP00000339867.2:n.1472-82C>T
NM_000083.2:c.1472-82C>T	NP_000074.2:n.1472-82C>T
NR_046453.1:n.1412-82C>T
XM_011515781.1:c.1496-82C>T	XP_011514083.1:n.1496-82C>T
XM_011515782.1:c.218-82C>T	XP_011514084.1:n.218-82C>T
XM_011515782.2:c.218-82C>T	XP_011514084.1:n.218-82C>T
XM_017011739.1:c.1046-82C>T	XP_016867228.1:n.1046-82C>T
XM_017011740.1:c.1022-82C>T	XP_016867229.1:n.1022-82C>T
NM_000083.3:c.1472-82C>T MANE Select	NP_000074.3:n.1472-82C>T
NR_046453.2:n.1427-82C>T