Canonical Allele Identifier: CA4537769

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2428480
• ClinVar RCV Id: RCV003120091
• dbSNP Id: rs746734545
• ExAC: 7:143048783 G / A
• gnomAD v2: 7-143048783-G-A
• gnomAD v3: 7-143351690-G-A
• gnomAD v4: 7-143351690-G-A
• MyVariant Identifiers: chr7:g.143048783G>A (hg19) ; chr7:g.143351690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351690G>A , CM000669.2:g.143351690G>A	GRCh38
NC_000007.13:g.143048783G>A , CM000669.1:g.143048783G>A	GRCh37
NC_000007.12:g.142758905G>A	NCBI36
NG_009815.1:g.40565G>A
NG_009815.2:g.40565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2692G>A	ENSP00000498052.2:p.Gly898Arg
ENST00000343257.7:c.2692G>A MANE Select	ENSP00000339867.2:p.Gly898Arg
ENST00000432192.6:c.2516G>A
ENST00000343257.6:c.2692G>A	ENSP00000339867.2:p.Gly898Arg
NM_000083.2:c.2692G>A	NP_000074.2:p.Gly898Arg
NR_046453.1:n.2632G>A
XM_011515781.1:c.2716G>A	XP_011514083.1:p.Gly906Arg
XM_011515782.1:c.1438G>A	XP_011514084.1:p.Gly480Arg
XM_011515782.2:c.1438G>A	XP_011514084.1:p.Gly480Arg
XM_017011739.1:c.2266G>A	XP_016867228.1:p.Gly756Arg
XM_017011740.1:c.2242G>A	XP_016867229.1:p.Gly748Arg
NM_000083.3:c.2692G>A MANE Select	NP_000074.3:p.Gly898Arg
NR_046453.2:n.2647G>A