Canonical Allele Identifier: CA369646627

Gene: CLCN1

Linked Data

• COSMIC: COSM4892474
• MyVariant Identifiers: chr7:g.143039157T>G (hg19) ; chr7:g.143342064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342064T>G , CM000669.2:g.143342064T>G	GRCh38
NC_000007.13:g.143039157T>G , CM000669.1:g.143039157T>G	GRCh37
NC_000007.12:g.142749279T>G	NCBI36
NG_009815.1:g.30939T>G
NG_009815.2:g.30939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1718T>G	ENSP00000498052.2:p.Leu573Arg
ENST00000343257.7:c.1718T>G MANE Select	ENSP00000339867.2:p.Leu573Arg
ENST00000432192.6:c.1542T>G
ENST00000343257.6:c.1718T>G	ENSP00000339867.2:p.Leu573Arg
NM_000083.2:c.1718T>G	NP_000074.2:p.Leu573Arg
NR_046453.1:n.1658T>G
XM_011515781.1:c.1742T>G	XP_011514083.1:p.Leu581Arg
XM_011515782.1:c.464T>G	XP_011514084.1:p.Leu155Arg
XM_011515782.2:c.464T>G	XP_011514084.1:p.Leu155Arg
XM_017011739.1:c.1292T>G	XP_016867228.1:p.Leu431Arg
XM_017011740.1:c.1268T>G	XP_016867229.1:p.Leu423Arg
NM_000083.3:c.1718T>G MANE Select	NP_000074.3:p.Leu573Arg
NR_046453.2:n.1673T>G