Canonical Allele Identifier: CA458542164

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 515414
• ClinVar RCV Id: RCV000616016 ; RCV002064309
• dbSNP Id: rs1427322271
• gnomAD v2: 7-143018900-C-T
• gnomAD v3: 7-143321807-C-T
• gnomAD v4: 7-143321807-C-T
• MyVariant Identifiers: chr7:g.143018900C>T (hg19) ; chr7:g.143321807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321807C>T , CM000669.2:g.143321807C>T	GRCh38
NC_000007.13:g.143018900C>T , CM000669.1:g.143018900C>T	GRCh37
NC_000007.12:g.142729022C>T	NCBI36
NG_009815.1:g.10682C>T
NG_009815.2:g.10682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.655C>T	ENSP00000498052.2:p.Leu219=
ENST00000343257.7:c.655C>T MANE Select	ENSP00000339867.2:p.Leu219=
ENST00000432192.6:c.423C>T
ENST00000455478.6:c.109C>T	ENSP00000400027.2:p.Leu37=
ENST00000650516.1:c.655C>T	ENSP00000498052.1:p.Leu219=
ENST00000343257.6:c.655C>T	ENSP00000339867.2:p.Leu219=
ENST00000432192.5:c.113C>T
ENST00000455478.5:c.113C>T
ENST00000495612.1:n.113C>T
NM_000083.2:c.655C>T	NP_000074.2:p.Leu219=
NR_046453.1:n.742C>T
XM_011515781.1:c.655C>T	XP_011514083.1:p.Leu219=
XM_017011739.1:c.362C>T	XP_016867228.1:p.Pro121Leu
XM_017011740.1:c.362C>T	XP_016867229.1:p.Pro121Leu
NM_000083.3:c.655C>T MANE Select	NP_000074.3:p.Leu219=
NR_046453.2:n.757C>T