Canonical Allele Identifier: CA4537002

Gene: CLCN1

Linked Data

• dbSNP Id: rs751167296
• ExAC: 7:143018810 T / A
• gnomAD v2: 7-143018810-T-A
• gnomAD v4: 7-143321717-T-A
• MyVariant Identifiers: chr7:g.143018810T>A (hg19) ; chr7:g.143321717T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321717T>A , CM000669.2:g.143321717T>A	GRCh38
NC_000007.13:g.143018810T>A , CM000669.1:g.143018810T>A	GRCh37
NC_000007.12:g.142728932T>A	NCBI36
NG_009815.1:g.10592T>A
NG_009815.2:g.10592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.565T>A	ENSP00000498052.2:p.Ser189Thr
ENST00000343257.7:c.565T>A MANE Select	ENSP00000339867.2:p.Ser189Thr
ENST00000432192.6:c.333T>A
ENST00000455478.6:c.19T>A	ENSP00000400027.2:p.Ser7Thr
ENST00000650516.1:c.565T>A	ENSP00000498052.1:p.Ser189Thr
ENST00000343257.6:c.565T>A	ENSP00000339867.2:p.Ser189Thr
ENST00000432192.5:c.23T>A
ENST00000455478.5:c.23T>A
ENST00000495612.1:n.23T>A
NM_000083.2:c.565T>A	NP_000074.2:p.Ser189Thr
NR_046453.1:n.652T>A
XM_011515781.1:c.565T>A	XP_011514083.1:p.Ser189Thr
XM_017011739.1:c.272T>A	XP_016867228.1:p.Leu91His
XM_017011740.1:c.272T>A	XP_016867229.1:p.Leu91His
NM_000083.3:c.565T>A MANE Select	NP_000074.3:p.Ser189Thr
NR_046453.2:n.667T>A