Canonical Allele Identifier: CA369654223

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803423784
• gnomAD v3: 7-143351920-C-G
• gnomAD v4: 7-143351920-C-G
• MyVariant Identifiers: chr7:g.143049013C>G (hg19) ; chr7:g.143351920C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351920C>G , CM000669.2:g.143351920C>G	GRCh38
NC_000007.13:g.143049013C>G , CM000669.1:g.143049013C>G	GRCh37
NC_000007.12:g.142759135C>G	NCBI36
NG_009815.1:g.40795C>G
NG_009815.2:g.40795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2922C>G	ENSP00000498052.2:p.Ser974Arg
ENST00000343257.7:c.2922C>G MANE Select	ENSP00000339867.2:p.Ser974Arg
ENST00000343257.6:c.2922C>G	ENSP00000339867.2:p.Ser974Arg
NM_000083.2:c.2922C>G	NP_000074.2:p.Ser974Arg
NR_046453.1:n.2862C>G
XM_011515781.1:c.2946C>G	XP_011514083.1:p.Ser982Arg
XM_011515782.1:c.1668C>G	XP_011514084.1:p.Ser556Arg
XM_011515782.2:c.1668C>G	XP_011514084.1:p.Ser556Arg
XM_017011739.1:c.2496C>G	XP_016867228.1:p.Ser832Arg
XM_017011740.1:c.2472C>G	XP_016867229.1:p.Ser824Arg
NM_000083.3:c.2922C>G MANE Select	NP_000074.3:p.Ser974Arg
NR_046453.2:n.2877C>G