Canonical Allele Identifier: CA4537440

Gene: CLCN1

Linked Data

• dbSNP Id: rs750422330
• ExAC: 7:143039050 C / A
• gnomAD v2: 7-143039050-C-A
• gnomAD v4: 7-143341957-C-A
• MyVariant Identifiers: chr7:g.143039050C>A (hg19) ; chr7:g.143341957C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341957C>A , CM000669.2:g.143341957C>A	GRCh38
NC_000007.13:g.143039050C>A , CM000669.1:g.143039050C>A	GRCh37
NC_000007.12:g.142749172C>A	NCBI36
NG_009815.1:g.30832C>A
NG_009815.2:g.30832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1611C>A	ENSP00000498052.2:p.Ser537=
ENST00000343257.7:c.1611C>A MANE Select	ENSP00000339867.2:p.Ser537=
ENST00000432192.6:c.1435C>A
ENST00000343257.6:c.1611C>A	ENSP00000339867.2:p.Ser537=
NM_000083.2:c.1611C>A	NP_000074.2:p.Ser537=
NR_046453.1:n.1551C>A
XM_011515781.1:c.1635C>A	XP_011514083.1:p.Ser545=
XM_011515782.1:c.357C>A	XP_011514084.1:p.Ser119=
XM_011515782.2:c.357C>A	XP_011514084.1:p.Ser119=
XM_017011739.1:c.1185C>A	XP_016867228.1:p.Ser395=
XM_017011740.1:c.1161C>A	XP_016867229.1:p.Ser387=
NM_000083.3:c.1611C>A MANE Select	NP_000074.3:p.Ser537=
NR_046453.2:n.1566C>A