Canonical Allele Identifier: CA4537299

Gene: CLCN1

Linked Data

• dbSNP Id: rs760863010
• ExAC: 7:143029785 G / A
• gnomAD v2: 7-143029785-G-A
• gnomAD v4: 7-143332692-G-A
• MyVariant Identifiers: chr7:g.143029785G>A (hg19) ; chr7:g.143332692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332692G>A , CM000669.2:g.143332692G>A	GRCh38
NC_000007.13:g.143029785G>A , CM000669.1:g.143029785G>A	GRCh37
NC_000007.12:g.142739907G>A	NCBI36
NG_009815.1:g.21567G>A
NG_009815.2:g.21567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-32G>A	ENSP00000498052.2:n.1252-32G>A
ENST00000343257.7:c.1252-32G>A MANE Select	ENSP00000339867.2:n.1252-32G>A
ENST00000432192.6:c.1076-32G>A
ENST00000343257.6:c.1252-32G>A	ENSP00000339867.2:n.1252-32G>A
NM_000083.2:c.1252-32G>A	NP_000074.2:n.1252-32G>A
NR_046453.1:n.1341+189G>A
XM_011515781.1:c.1276-32G>A	XP_011514083.1:n.1276-32G>A
XM_011515782.1:c.-3-32G>A	XP_011514084.1:n.-3-32G>A
XM_011515782.2:c.-3-32G>A	XP_011514084.1:n.-3-32G>A
XM_017011739.1:c.826-32G>A	XP_016867228.1:n.826-32G>A
XM_017011740.1:c.802-32G>A	XP_016867229.1:n.802-32G>A
NM_000083.3:c.1252-32G>A MANE Select	NP_000074.3:n.1252-32G>A
NR_046453.2:n.1356+189G>A