Canonical Allele Identifier: CA168255538

Gene: CLCN1

Linked Data

• dbSNP Id: rs543401459
• gnomAD v3: 7-143321366-C-T
• gnomAD v4: 7-143321366-C-T
• MyVariant Identifiers: chr7:g.143018459C>T (hg19) ; chr7:g.143321366C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321366C>T , CM000669.2:g.143321366C>T	GRCh38
NC_000007.13:g.143018459C>T , CM000669.1:g.143018459C>T	GRCh37
NC_000007.12:g.142728581C>T	NCBI36
NG_009815.1:g.10241C>T
NG_009815.2:g.10241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.435C>T	ENSP00000498052.2:p.Ala145=
ENST00000343257.7:c.435C>T MANE Select	ENSP00000339867.2:p.Ala145=
ENST00000432192.6:c.203C>T
ENST00000650516.1:c.435C>T	ENSP00000498052.1:p.Ala145=
ENST00000343257.6:c.435C>T	ENSP00000339867.2:p.Ala145=
NM_000083.2:c.435C>T	NP_000074.2:p.Ala145=
NR_046453.1:n.522C>T
XM_011515781.1:c.435C>T	XP_011514083.1:p.Ala145=
XM_017011739.1:c.142C>T	XP_016867228.1:p.Leu48=
XM_017011740.1:c.142C>T	XP_016867229.1:p.Leu48=
NM_000083.3:c.435C>T MANE Select	NP_000074.3:p.Ala145=
NR_046453.2:n.537C>T