Canonical Allele Identifier: CA168212578

Gene: CLCN1

Linked Data

• dbSNP Id: rs982703615
• MyVariant Identifiers: chr7:g.143027946G>A (hg19) ; chr7:g.143330853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330853G>A , CM000669.2:g.143330853G>A	GRCh38
NC_000007.13:g.143027946G>A , CM000669.1:g.143027946G>A	GRCh37
NC_000007.12:g.142738068G>A	NCBI36
NG_009815.1:g.19728G>A
NG_009815.2:g.19728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.935G>A	ENSP00000498052.2:p.Ser312Asn
ENST00000343257.7:c.935G>A MANE Select	ENSP00000339867.2:p.Ser312Asn
ENST00000432192.6:c.759G>A
ENST00000455478.6:c.523G>A	ENSP00000400027.2:n.523G>A
ENST00000650516.1:c.935G>A	ENSP00000498052.1:p.Ser312Asn
ENST00000343257.6:c.935G>A	ENSP00000339867.2:p.Ser312Asn
ENST00000432192.5:c.449G>A
ENST00000455478.5:c.527G>A
ENST00000495612.1:n.236G>A
NM_000083.2:c.935G>A	NP_000074.2:p.Ser312Asn
NR_046453.1:n.1025G>A
XM_011515781.1:c.935G>A	XP_011514083.1:p.Ser312Asn
XM_017011739.1:c.485G>A	XP_016867228.1:p.Ser162Asn
XM_017011740.1:c.485G>A	XP_016867229.1:p.Ser162Asn
NM_000083.3:c.935G>A MANE Select	NP_000074.3:p.Ser312Asn
NR_046453.2:n.1040G>A