Canonical Allele Identifier: CA369646624

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342063-C-A
• MyVariant Identifiers: chr7:g.143039156C>A (hg19) ; chr7:g.143342063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342063C>A , CM000669.2:g.143342063C>A	GRCh38
NC_000007.13:g.143039156C>A , CM000669.1:g.143039156C>A	GRCh37
NC_000007.12:g.142749278C>A	NCBI36
NG_009815.1:g.30938C>A
NG_009815.2:g.30938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1717C>A	ENSP00000498052.2:p.Leu573Met
ENST00000343257.7:c.1717C>A MANE Select	ENSP00000339867.2:p.Leu573Met
ENST00000432192.6:c.1541C>A
ENST00000343257.6:c.1717C>A	ENSP00000339867.2:p.Leu573Met
NM_000083.2:c.1717C>A	NP_000074.2:p.Leu573Met
NR_046453.1:n.1657C>A
XM_011515781.1:c.1741C>A	XP_011514083.1:p.Leu581Met
XM_011515782.1:c.463C>A	XP_011514084.1:p.Leu155Met
XM_011515782.2:c.463C>A	XP_011514084.1:p.Leu155Met
XM_017011739.1:c.1291C>A	XP_016867228.1:p.Leu431Met
XM_017011740.1:c.1267C>A	XP_016867229.1:p.Leu423Met
NM_000083.3:c.1717C>A MANE Select	NP_000074.3:p.Leu573Met
NR_046453.2:n.1672C>A