Canonical Allele Identifier: CA458542464

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803412614
• MyVariant Identifiers: chr7:g.143048803A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351710A>G , CM000669.2:g.143351710A>G	GRCh38
NC_000007.13:g.143048803A>G , CM000669.1:g.143048803A>G	GRCh37
NC_000007.12:g.142758925A>G	NCBI36
NG_009815.1:g.40585A>G
NG_009815.2:g.40585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2712A>G	ENSP00000498052.2:p.Ala904=
ENST00000343257.7:c.2712A>G MANE Select	ENSP00000339867.2:p.Ala904=
ENST00000432192.6:c.2536A>G
ENST00000343257.6:c.2712A>G	ENSP00000339867.2:p.Ala904=
NM_000083.2:c.2712A>G	NP_000074.2:p.Ala904=
NR_046453.1:n.2652A>G
XM_011515781.1:c.2736A>G	XP_011514083.1:p.Ala912=
XM_011515782.1:c.1458A>G	XP_011514084.1:p.Ala486=
XM_011515782.2:c.1458A>G	XP_011514084.1:p.Ala486=
XM_017011739.1:c.2286A>G	XP_016867228.1:p.Ala762=
XM_017011740.1:c.2262A>G	XP_016867229.1:p.Ala754=
NM_000083.3:c.2712A>G MANE Select	NP_000074.3:p.Ala904=
NR_046453.2:n.2667A>G