Canonical Allele Identifier: CA4536977

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 938937
• ClinVar RCV Id: RCV001208244
• dbSNP Id: rs766286036
• ExAC: 7:143018553 C / G
• gnomAD v2: 7-143018553-C-G
• gnomAD v4: 7-143321460-C-G
• MyVariant Identifiers: chr7:g.143018553C>G (hg19) ; chr7:g.143321460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321460C>G , CM000669.2:g.143321460C>G	GRCh38
NC_000007.13:g.143018553C>G , CM000669.1:g.143018553C>G	GRCh37
NC_000007.12:g.142728675C>G	NCBI36
NG_009815.1:g.10335C>G
NG_009815.2:g.10335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.529C>G	ENSP00000498052.2:p.Leu177Val
ENST00000343257.7:c.529C>G MANE Select	ENSP00000339867.2:p.Leu177Val
ENST00000432192.6:c.297C>G
ENST00000650516.1:c.529C>G	ENSP00000498052.1:p.Leu177Val
ENST00000343257.6:c.529C>G	ENSP00000339867.2:p.Leu177Val
NM_000083.2:c.529C>G	NP_000074.2:p.Leu177Val
NR_046453.1:n.616C>G
XM_011515781.1:c.529C>G	XP_011514083.1:p.Leu177Val
XM_017011739.1:c.236C>G	XP_016867228.1:p.Pro79Arg
XM_017011740.1:c.236C>G	XP_016867229.1:p.Pro79Arg
NM_000083.3:c.529C>G MANE Select	NP_000074.3:p.Leu177Val
NR_046453.2:n.631C>G