Canonical Allele Identifier: CA458542354

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048761G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351668G>C , CM000669.2:g.143351668G>C	GRCh38
NC_000007.13:g.143048761G>C , CM000669.1:g.143048761G>C	GRCh37
NC_000007.12:g.142758883G>C	NCBI36
NG_009815.1:g.40543G>C
NG_009815.2:g.40543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2670G>C	ENSP00000498052.2:p.Thr890=
ENST00000343257.7:c.2670G>C MANE Select	ENSP00000339867.2:p.Thr890=
ENST00000432192.6:c.2494G>C
ENST00000343257.6:c.2670G>C	ENSP00000339867.2:p.Thr890=
NM_000083.2:c.2670G>C	NP_000074.2:p.Thr890=
NR_046453.1:n.2610G>C
XM_011515781.1:c.2694G>C	XP_011514083.1:p.Thr898=
XM_011515782.1:c.1416G>C	XP_011514084.1:p.Thr472=
XM_011515782.2:c.1416G>C	XP_011514084.1:p.Thr472=
XM_017011739.1:c.2244G>C	XP_016867228.1:p.Thr748=
XM_017011740.1:c.2220G>C	XP_016867229.1:p.Thr740=
NM_000083.3:c.2670G>C MANE Select	NP_000074.3:p.Thr890=
NR_046453.2:n.2625G>C