Canonical Allele Identifier: CA369646823

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342138-C-T
• MyVariant Identifiers: chr7:g.143039231C>T (hg19) ; chr7:g.143342138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342138C>T , CM000669.2:g.143342138C>T	GRCh38
NC_000007.13:g.143039231C>T , CM000669.1:g.143039231C>T	GRCh37
NC_000007.12:g.142749353C>T	NCBI36
NG_009815.1:g.31013C>T
NG_009815.2:g.31013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1792C>T	ENSP00000498052.2:p.Leu598Phe
ENST00000343257.7:c.1792C>T MANE Select	ENSP00000339867.2:p.Leu598Phe
ENST00000432192.6:c.1616C>T
ENST00000343257.6:c.1792C>T	ENSP00000339867.2:p.Leu598Phe
NM_000083.2:c.1792C>T	NP_000074.2:p.Leu598Phe
NR_046453.1:n.1732C>T
XM_011515781.1:c.1816C>T	XP_011514083.1:p.Leu606Phe
XM_011515782.1:c.538C>T	XP_011514084.1:p.Leu180Phe
XM_011515782.2:c.538C>T	XP_011514084.1:p.Leu180Phe
XM_017011739.1:c.1366C>T	XP_016867228.1:p.Leu456Phe
XM_017011740.1:c.1342C>T	XP_016867229.1:p.Leu448Phe
NM_000083.3:c.1792C>T MANE Select	NP_000074.3:p.Leu598Phe
NR_046453.2:n.1747C>T