Canonical Allele Identifier: CA4537309

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 763666
• ClinVar RCV Id: RCV001439100
• dbSNP Id: rs745472087
• ExAC: 7:143029828 C / T
• gnomAD v2: 7-143029828-C-T
• gnomAD v3: 7-143332735-C-T
• gnomAD v4: 7-143332735-C-T
• MyVariant Identifiers: chr7:g.143029828C>T (hg19) ; chr7:g.143332735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332735C>T , CM000669.2:g.143332735C>T	GRCh38
NC_000007.13:g.143029828C>T , CM000669.1:g.143029828C>T	GRCh37
NC_000007.12:g.142739950C>T	NCBI36
NG_009815.1:g.21610C>T
NG_009815.2:g.21610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1263C>T	ENSP00000498052.2:p.Arg421=
ENST00000343257.7:c.1263C>T MANE Select	ENSP00000339867.2:p.Arg421=
ENST00000432192.6:c.1087C>T
ENST00000343257.6:c.1263C>T	ENSP00000339867.2:p.Arg421=
NM_000083.2:c.1263C>T	NP_000074.2:p.Arg421=
NR_046453.1:n.1341+232C>T
XM_011515781.1:c.1287C>T	XP_011514083.1:p.Arg429=
XM_011515782.1:c.9C>T	XP_011514084.1:p.Arg3=
XM_011515782.2:c.9C>T	XP_011514084.1:p.Arg3=
XM_017011739.1:c.837C>T	XP_016867228.1:p.Arg279=
XM_017011740.1:c.813C>T	XP_016867229.1:p.Arg271=
NM_000083.3:c.1263C>T MANE Select	NP_000074.3:p.Arg421=
NR_046453.2:n.1356+232C>T