Canonical Allele Identifier: CA4537805

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 449671
• ClinVar RCV Id: RCV000711231 ; RCV000798907 ; RCV001161762 ; RCV003883154
• dbSNP Id: rs150796358
• ExAC: 7:143048955 A / T
• gnomAD v2: 7-143048955-A-T
• gnomAD v3: 7-143351862-A-T
• gnomAD v4: 7-143351862-A-T
• MyVariant Identifiers: chr7:g.143048955A>T (hg19) ; chr7:g.143351862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351862A>T , CM000669.2:g.143351862A>T	GRCh38
NC_000007.13:g.143048955A>T , CM000669.1:g.143048955A>T	GRCh37
NC_000007.12:g.142759077A>T	NCBI36
NG_009815.1:g.40737A>T
NG_009815.2:g.40737A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2864A>T	ENSP00000498052.2:p.Glu955Val
ENST00000343257.7:c.2864A>T MANE Select	ENSP00000339867.2:p.Glu955Val
ENST00000343257.6:c.2864A>T	ENSP00000339867.2:p.Glu955Val
NM_000083.2:c.2864A>T	NP_000074.2:p.Glu955Val
NR_046453.1:n.2804A>T
XM_011515781.1:c.2888A>T	XP_011514083.1:p.Glu963Val
XM_011515782.1:c.1610A>T	XP_011514084.1:p.Glu537Val
XM_011515782.2:c.1610A>T	XP_011514084.1:p.Glu537Val
XM_017011739.1:c.2438A>T	XP_016867228.1:p.Glu813Val
XM_017011740.1:c.2414A>T	XP_016867229.1:p.Glu805Val
NM_000083.3:c.2864A>T MANE Select	NP_000074.3:p.Glu955Val
NR_046453.2:n.2819A>T