Canonical Allele Identifier: CA458541961

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2951516
• ClinVar RCV Id: RCV003805218
• dbSNP Id: rs1293896207
• gnomAD v2: 7-143018471-C-T
• gnomAD v4: 7-143321378-C-T
• MyVariant Identifiers: chr7:g.143018471C>T (hg19) ; chr7:g.143321378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321378C>T , CM000669.2:g.143321378C>T	GRCh38
NC_000007.13:g.143018471C>T , CM000669.1:g.143018471C>T	GRCh37
NC_000007.12:g.142728593C>T	NCBI36
NG_009815.1:g.10253C>T
NG_009815.2:g.10253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.447C>T	ENSP00000498052.2:p.Ser149=
ENST00000343257.7:c.447C>T MANE Select	ENSP00000339867.2:p.Ser149=
ENST00000432192.6:c.215C>T
ENST00000650516.1:c.447C>T	ENSP00000498052.1:p.Ser149=
ENST00000343257.6:c.447C>T	ENSP00000339867.2:p.Ser149=
NM_000083.2:c.447C>T	NP_000074.2:p.Ser149=
NR_046453.1:n.534C>T
XM_011515781.1:c.447C>T	XP_011514083.1:p.Ser149=
XM_017011739.1:c.154C>T	XP_016867228.1:p.Leu52=
XM_017011740.1:c.154C>T	XP_016867229.1:p.Leu52=
NM_000083.3:c.447C>T MANE Select	NP_000074.3:p.Ser149=
NR_046453.2:n.549C>T