Canonical Allele Identifier: CA458542042

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2922829
• ClinVar RCV Id: RCV003787995
• gnomAD v4: 7-143321450-C-T
• MyVariant Identifiers: chr7:g.143018543C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321450C>T , CM000669.2:g.143321450C>T	GRCh38
NC_000007.13:g.143018543C>T , CM000669.1:g.143018543C>T	GRCh37
NC_000007.12:g.142728665C>T	NCBI36
NG_009815.1:g.10325C>T
NG_009815.2:g.10325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.519C>T	ENSP00000498052.2:p.Leu173=
ENST00000343257.7:c.519C>T MANE Select	ENSP00000339867.2:p.Leu173=
ENST00000432192.6:c.287C>T
ENST00000650516.1:c.519C>T	ENSP00000498052.1:p.Leu173=
ENST00000343257.6:c.519C>T	ENSP00000339867.2:p.Leu173=
NM_000083.2:c.519C>T	NP_000074.2:p.Leu173=
NR_046453.1:n.606C>T
XM_011515781.1:c.519C>T	XP_011514083.1:p.Leu173=
XM_017011739.1:c.226C>T	XP_016867228.1:p.Leu76Phe
XM_017011740.1:c.226C>T	XP_016867229.1:p.Leu76Phe
NM_000083.3:c.519C>T MANE Select	NP_000074.3:p.Leu173=
NR_046453.2:n.621C>T