Canonical Allele Identifier: CA4537176

Gene: CLCN1

Linked Data

• dbSNP Id: rs764804597
• ExAC: 7:143027923 A / T
• gnomAD v2: 7-143027923-A-T
• gnomAD v3: 7-143330830-A-T
• gnomAD v4: 7-143330830-A-T
• MyVariant Identifiers: chr7:g.143027923A>T (hg19) ; chr7:g.143330830A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330830A>T , CM000669.2:g.143330830A>T	GRCh38
NC_000007.13:g.143027923A>T , CM000669.1:g.143027923A>T	GRCh37
NC_000007.12:g.142738045A>T	NCBI36
NG_009815.1:g.19705A>T
NG_009815.2:g.19705A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.912A>T	ENSP00000498052.2:p.Arg304Ser
ENST00000343257.7:c.912A>T MANE Select	ENSP00000339867.2:p.Arg304Ser
ENST00000432192.6:c.736A>T
ENST00000455478.6:c.500A>T	ENSP00000400027.2:n.500A>T
ENST00000650516.1:c.912A>T	ENSP00000498052.1:p.Arg304Ser
ENST00000343257.6:c.912A>T	ENSP00000339867.2:p.Arg304Ser
ENST00000432192.5:c.426A>T
ENST00000455478.5:c.504A>T
ENST00000495612.1:n.213A>T
NM_000083.2:c.912A>T	NP_000074.2:p.Arg304Ser
NR_046453.1:n.1002A>T
XM_011515781.1:c.912A>T	XP_011514083.1:p.Arg304Ser
XM_017011739.1:c.462A>T	XP_016867228.1:p.Arg154Ser
XM_017011740.1:c.462A>T	XP_016867229.1:p.Arg154Ser
NM_000083.3:c.912A>T MANE Select	NP_000074.3:p.Arg304Ser
NR_046453.2:n.1017A>T