Canonical Allele Identifier: CA369683678

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1305539
• ClinVar RCV Id: RCV001768746 ; RCV002543994
• dbSNP Id: rs1418010822
• gnomAD v4: 7-143321427-A-T
• MyVariant Identifiers: chr7:g.143018520A>T (hg19) ; chr7:g.143321427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321427A>T , CM000669.2:g.143321427A>T	GRCh38
NC_000007.13:g.143018520A>T , CM000669.1:g.143018520A>T	GRCh37
NC_000007.12:g.142728642A>T	NCBI36
NG_009815.1:g.10302A>T
NG_009815.2:g.10302A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.496A>T	ENSP00000498052.2:p.Thr166Ser
ENST00000343257.7:c.496A>T MANE Select	ENSP00000339867.2:p.Thr166Ser
ENST00000432192.6:c.264A>T
ENST00000650516.1:c.496A>T	ENSP00000498052.1:p.Thr166Ser
ENST00000343257.6:c.496A>T	ENSP00000339867.2:p.Thr166Ser
NM_000083.2:c.496A>T	NP_000074.2:p.Thr166Ser
NR_046453.1:n.583A>T
XM_011515781.1:c.496A>T	XP_011514083.1:p.Thr166Ser
XM_017011739.1:c.203A>T	XP_016867228.1:p.His68Leu
XM_017011740.1:c.203A>T	XP_016867229.1:p.His68Leu
NM_000083.3:c.496A>T MANE Select	NP_000074.3:p.Thr166Ser
NR_046453.2:n.598A>T