Canonical Allele Identifier: CA458280554

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027926A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330833A>C , CM000669.2:g.143330833A>C	GRCh38
NC_000007.13:g.143027926A>C , CM000669.1:g.143027926A>C	GRCh37
NC_000007.12:g.142738048A>C	NCBI36
NG_009815.1:g.19708A>C
NG_009815.2:g.19708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.915A>C	ENSP00000498052.2:p.Gly305=
ENST00000343257.7:c.915A>C MANE Select	ENSP00000339867.2:p.Gly305=
ENST00000432192.6:c.739A>C
ENST00000455478.6:c.503A>C	ENSP00000400027.2:n.503A>C
ENST00000650516.1:c.915A>C	ENSP00000498052.1:p.Gly305=
ENST00000343257.6:c.915A>C	ENSP00000339867.2:p.Gly305=
ENST00000432192.5:c.429A>C
ENST00000455478.5:c.507A>C
ENST00000495612.1:n.216A>C
NM_000083.2:c.915A>C	NP_000074.2:p.Gly305=
NR_046453.1:n.1005A>C
XM_011515781.1:c.915A>C	XP_011514083.1:p.Gly305=
XM_017011739.1:c.465A>C	XP_016867228.1:p.Gly155=
XM_017011740.1:c.465A>C	XP_016867229.1:p.Gly155=
NM_000083.3:c.915A>C MANE Select	NP_000074.3:p.Gly305=
NR_046453.2:n.1020A>C