Canonical Allele Identifier: CA4537768

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1145037
• ClinVar RCV Id: RCV001483729
• dbSNP Id: rs777416660
• ExAC: 7:143048782 C / T
• gnomAD v2: 7-143048782-C-T
• gnomAD v3: 7-143351689-C-T
• gnomAD v4: 7-143351689-C-T
• MyVariant Identifiers: chr7:g.143048782C>T (hg19) ; chr7:g.143351689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351689C>T , CM000669.2:g.143351689C>T	GRCh38
NC_000007.13:g.143048782C>T , CM000669.1:g.143048782C>T	GRCh37
NC_000007.12:g.142758904C>T	NCBI36
NG_009815.1:g.40564C>T
NG_009815.2:g.40564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2691C>T	ENSP00000498052.2:p.Thr897=
ENST00000343257.7:c.2691C>T MANE Select	ENSP00000339867.2:p.Thr897=
ENST00000432192.6:c.2515C>T
ENST00000343257.6:c.2691C>T	ENSP00000339867.2:p.Thr897=
NM_000083.2:c.2691C>T	NP_000074.2:p.Thr897=
NR_046453.1:n.2631C>T
XM_011515781.1:c.2715C>T	XP_011514083.1:p.Thr905=
XM_011515782.1:c.1437C>T	XP_011514084.1:p.Thr479=
XM_011515782.2:c.1437C>T	XP_011514084.1:p.Thr479=
XM_017011739.1:c.2265C>T	XP_016867228.1:p.Thr755=
XM_017011740.1:c.2241C>T	XP_016867229.1:p.Thr747=
NM_000083.3:c.2691C>T MANE Select	NP_000074.3:p.Thr897=
NR_046453.2:n.2646C>T