Canonical Allele Identifier: CA4537753

Gene: CLCN1

Linked Data

• dbSNP Id: rs760380991
• ExAC: 7:143048696 G / A
• gnomAD v2: 7-143048696-G-A
• gnomAD v4: 7-143351603-G-A
• MyVariant Identifiers: chr7:g.143048696G>A (hg19) ; chr7:g.143351603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351603G>A , CM000669.2:g.143351603G>A	GRCh38
NC_000007.13:g.143048696G>A , CM000669.1:g.143048696G>A	GRCh37
NC_000007.12:g.142758818G>A	NCBI36
NG_009815.1:g.40478G>A
NG_009815.2:g.40478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2605G>A	ENSP00000498052.2:p.Ala869Thr
ENST00000343257.7:c.2605G>A MANE Select	ENSP00000339867.2:p.Ala869Thr
ENST00000432192.6:c.2429G>A
ENST00000343257.6:c.2605G>A	ENSP00000339867.2:p.Ala869Thr
NM_000083.2:c.2605G>A	NP_000074.2:p.Ala869Thr
NR_046453.1:n.2545G>A
XM_011515781.1:c.2629G>A	XP_011514083.1:p.Ala877Thr
XM_011515782.1:c.1351G>A	XP_011514084.1:p.Ala451Thr
XM_011515782.2:c.1351G>A	XP_011514084.1:p.Ala451Thr
XM_017011739.1:c.2179G>A	XP_016867228.1:p.Ala727Thr
XM_017011740.1:c.2155G>A	XP_016867229.1:p.Ala719Thr
NM_000083.3:c.2605G>A MANE Select	NP_000074.3:p.Ala869Thr
NR_046453.2:n.2560G>A