Canonical Allele Identifier: CA458542093

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018842T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321749T>C , CM000669.2:g.143321749T>C	GRCh38
NC_000007.13:g.143018842T>C , CM000669.1:g.143018842T>C	GRCh37
NC_000007.12:g.142728964T>C	NCBI36
NG_009815.1:g.10624T>C
NG_009815.2:g.10624T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.597T>C	ENSP00000498052.2:p.Arg199=
ENST00000343257.7:c.597T>C MANE Select	ENSP00000339867.2:p.Arg199=
ENST00000432192.6:c.365T>C
ENST00000455478.6:c.51T>C	ENSP00000400027.2:p.Arg17=
ENST00000650516.1:c.597T>C	ENSP00000498052.1:p.Arg199=
ENST00000343257.6:c.597T>C	ENSP00000339867.2:p.Arg199=
ENST00000432192.5:c.55T>C
ENST00000455478.5:c.55T>C
ENST00000495612.1:n.55T>C
NM_000083.2:c.597T>C	NP_000074.2:p.Arg199=
NR_046453.1:n.684T>C
XM_011515781.1:c.597T>C	XP_011514083.1:p.Arg199=
XM_017011739.1:c.304T>C	XP_016867228.1:p.Trp102Arg
XM_017011740.1:c.304T>C	XP_016867229.1:p.Trp102Arg
NM_000083.3:c.597T>C MANE Select	NP_000074.3:p.Arg199=
NR_046453.2:n.699T>C