Canonical Allele Identifier: CA458283417

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2937697
• ClinVar RCV Id: RCV003794327
• dbSNP Id: rs1389790206
• MyVariant Identifiers: chr7:g.143039161G>A (hg19) ; chr7:g.143342068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342068G>A , CM000669.2:g.143342068G>A	GRCh38
NC_000007.13:g.143039161G>A , CM000669.1:g.143039161G>A	GRCh37
NC_000007.12:g.142749283G>A	NCBI36
NG_009815.1:g.30943G>A
NG_009815.2:g.30943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1722G>A	ENSP00000498052.2:p.Gln574=
ENST00000343257.7:c.1722G>A MANE Select	ENSP00000339867.2:p.Gln574=
ENST00000432192.6:c.1546G>A
ENST00000343257.6:c.1722G>A	ENSP00000339867.2:p.Gln574=
NM_000083.2:c.1722G>A	NP_000074.2:p.Gln574=
NR_046453.1:n.1662G>A
XM_011515781.1:c.1746G>A	XP_011514083.1:p.Gln582=
XM_011515782.1:c.468G>A	XP_011514084.1:p.Gln156=
XM_011515782.2:c.468G>A	XP_011514084.1:p.Gln156=
XM_017011739.1:c.1296G>A	XP_016867228.1:p.Gln432=
XM_017011740.1:c.1272G>A	XP_016867229.1:p.Gln424=
NM_000083.3:c.1722G>A MANE Select	NP_000074.3:p.Gln574=
NR_046453.2:n.1677G>A