Canonical Allele Identifier: CA369645609

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 935241
• ClinVar RCV Id: RCV001203791
• dbSNP Id: rs1803022284
• MyVariant Identifiers: chr7:g.143036628G>A (hg19) ; chr7:g.143339535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339535G>A , CM000669.2:g.143339535G>A	GRCh38
NC_000007.13:g.143036628G>A , CM000669.1:g.143036628G>A	GRCh37
NC_000007.12:g.142746750G>A	NCBI36
NG_009815.1:g.28410G>A
NG_009815.2:g.28410G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1496G>A	ENSP00000498052.2:p.Gly499Glu
ENST00000343257.7:c.1496G>A MANE Select	ENSP00000339867.2:p.Gly499Glu
ENST00000432192.6:c.1320G>A
ENST00000343257.6:c.1496G>A	ENSP00000339867.2:p.Gly499Glu
NM_000083.2:c.1496G>A	NP_000074.2:p.Gly499Glu
NR_046453.1:n.1436G>A
XM_011515781.1:c.1520G>A	XP_011514083.1:p.Gly507Glu
XM_011515782.1:c.242G>A	XP_011514084.1:p.Gly81Glu
XM_011515782.2:c.242G>A	XP_011514084.1:p.Gly81Glu
XM_017011739.1:c.1070G>A	XP_016867228.1:p.Gly357Glu
XM_017011740.1:c.1046G>A	XP_016867229.1:p.Gly349Glu
NM_000083.3:c.1496G>A MANE Select	NP_000074.3:p.Gly499Glu
NR_046453.2:n.1451G>A