Canonical Allele Identifier: CA369646723

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039201C>A (hg19) ; chr7:g.143342108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342108C>A , CM000669.2:g.143342108C>A	GRCh38
NC_000007.13:g.143039201C>A , CM000669.1:g.143039201C>A	GRCh37
NC_000007.12:g.142749323C>A	NCBI36
NG_009815.1:g.30983C>A
NG_009815.2:g.30983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1762C>A	ENSP00000498052.2:p.Pro588Thr
ENST00000343257.7:c.1762C>A MANE Select	ENSP00000339867.2:p.Pro588Thr
ENST00000432192.6:c.1586C>A
ENST00000343257.6:c.1762C>A	ENSP00000339867.2:p.Pro588Thr
NM_000083.2:c.1762C>A	NP_000074.2:p.Pro588Thr
NR_046453.1:n.1702C>A
XM_011515781.1:c.1786C>A	XP_011514083.1:p.Pro596Thr
XM_011515782.1:c.508C>A	XP_011514084.1:p.Pro170Thr
XM_011515782.2:c.508C>A	XP_011514084.1:p.Pro170Thr
XM_017011739.1:c.1336C>A	XP_016867228.1:p.Pro446Thr
XM_017011740.1:c.1312C>A	XP_016867229.1:p.Pro438Thr
NM_000083.3:c.1762C>A MANE Select	NP_000074.3:p.Pro588Thr
NR_046453.2:n.1717C>A