Canonical Allele Identifier: CA458282221

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143029828C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332735C>A , CM000669.2:g.143332735C>A	GRCh38
NC_000007.13:g.143029828C>A , CM000669.1:g.143029828C>A	GRCh37
NC_000007.12:g.142739950C>A	NCBI36
NG_009815.1:g.21610C>A
NG_009815.2:g.21610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1263C>A	ENSP00000498052.2:p.Arg421=
ENST00000343257.7:c.1263C>A MANE Select	ENSP00000339867.2:p.Arg421=
ENST00000432192.6:c.1087C>A
ENST00000343257.6:c.1263C>A	ENSP00000339867.2:p.Arg421=
NM_000083.2:c.1263C>A	NP_000074.2:p.Arg421=
NR_046453.1:n.1341+232C>A
XM_011515781.1:c.1287C>A	XP_011514083.1:p.Arg429=
XM_011515782.1:c.9C>A	XP_011514084.1:p.Arg3=
XM_011515782.2:c.9C>A	XP_011514084.1:p.Arg3=
XM_017011739.1:c.837C>A	XP_016867228.1:p.Arg279=
XM_017011740.1:c.813C>A	XP_016867229.1:p.Arg271=
NM_000083.3:c.1263C>A MANE Select	NP_000074.3:p.Arg421=
NR_046453.2:n.1356+232C>A