Canonical Allele Identifier: CA4537340

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 447050
• ClinVar RCV Id: RCV001060222 ; RCV003485596
• dbSNP Id: rs769861892
• ExAC: 7:143029967 G / T
• gnomAD v2: 7-143029967-G-T
• gnomAD v3: 7-143332874-G-T
• gnomAD v4: 7-143332874-G-T
• MyVariant Identifiers: chr7:g.143029967G>T (hg19) ; chr7:g.143332874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332874G>T , CM000669.2:g.143332874G>T	GRCh38
NC_000007.13:g.143029967G>T , CM000669.1:g.143029967G>T	GRCh37
NC_000007.12:g.142740089G>T	NCBI36
NG_009815.1:g.21749G>T
NG_009815.2:g.21749G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1401+1G>T	ENSP00000498052.2:n.1401+1G>T
ENST00000343257.7:c.1401+1G>T MANE Select	ENSP00000339867.2:n.1401+1G>T
ENST00000432192.6:c.1225+1G>T
ENST00000343257.6:c.1401+1G>T	ENSP00000339867.2:n.1401+1G>T
NM_000083.2:c.1401+1G>T	NP_000074.2:n.1401+1G>T
NR_046453.1:n.1341+371G>T
XM_011515781.1:c.1425+1G>T	XP_011514083.1:n.1425+1G>T
XM_011515782.1:c.147+1G>T	XP_011514084.1:n.147+1G>T
XM_011515782.2:c.147+1G>T	XP_011514084.1:n.147+1G>T
XM_017011739.1:c.975+1G>T	XP_016867228.1:n.975+1G>T
XM_017011740.1:c.951+1G>T	XP_016867229.1:n.951+1G>T
NM_000083.3:c.1401+1G>T MANE Select	NP_000074.3:n.1401+1G>T
NR_046453.2:n.1356+371G>T