Canonical Allele Identifier: CA369646428

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803089186
• gnomAD v4: 7-143341973-G-A
• MyVariant Identifiers: chr7:g.143039066G>A (hg19) ; chr7:g.143341973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341973G>A , CM000669.2:g.143341973G>A	GRCh38
NC_000007.13:g.143039066G>A , CM000669.1:g.143039066G>A	GRCh37
NC_000007.12:g.142749188G>A	NCBI36
NG_009815.1:g.30848G>A
NG_009815.2:g.30848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1627G>A	ENSP00000498052.2:p.Ala543Thr
ENST00000343257.7:c.1627G>A MANE Select	ENSP00000339867.2:p.Ala543Thr
ENST00000432192.6:c.1451G>A
ENST00000343257.6:c.1627G>A	ENSP00000339867.2:p.Ala543Thr
NM_000083.2:c.1627G>A	NP_000074.2:p.Ala543Thr
NR_046453.1:n.1567G>A
XM_011515781.1:c.1651G>A	XP_011514083.1:p.Ala551Thr
XM_011515782.1:c.373G>A	XP_011514084.1:p.Ala125Thr
XM_011515782.2:c.373G>A	XP_011514084.1:p.Ala125Thr
XM_017011739.1:c.1201G>A	XP_016867228.1:p.Ala401Thr
XM_017011740.1:c.1177G>A	XP_016867229.1:p.Ala393Thr
NM_000083.3:c.1627G>A MANE Select	NP_000074.3:p.Ala543Thr
NR_046453.2:n.1582G>A