Canonical Allele Identifier: CA4537778

Gene: CLCN1

Linked Data

• dbSNP Id: rs762103571
• ExAC: 7:143048832 C / G
• gnomAD v2: 7-143048832-C-G
• gnomAD v4: 7-143351739-C-G
• MyVariant Identifiers: chr7:g.143048832C>G (hg19) ; chr7:g.143351739C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351739C>G , CM000669.2:g.143351739C>G	GRCh38
NC_000007.13:g.143048832C>G , CM000669.1:g.143048832C>G	GRCh37
NC_000007.12:g.142758954C>G	NCBI36
NG_009815.1:g.40614C>G
NG_009815.2:g.40614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2741C>G	ENSP00000498052.2:p.Pro914Arg
ENST00000343257.7:c.2741C>G MANE Select	ENSP00000339867.2:p.Pro914Arg
ENST00000343257.6:c.2741C>G	ENSP00000339867.2:p.Pro914Arg
NM_000083.2:c.2741C>G	NP_000074.2:p.Pro914Arg
NR_046453.1:n.2681C>G
XM_011515781.1:c.2765C>G	XP_011514083.1:p.Pro922Arg
XM_011515782.1:c.1487C>G	XP_011514084.1:p.Pro496Arg
XM_011515782.2:c.1487C>G	XP_011514084.1:p.Pro496Arg
XM_017011739.1:c.2315C>G	XP_016867228.1:p.Pro772Arg
XM_017011740.1:c.2291C>G	XP_016867229.1:p.Pro764Arg
NM_000083.3:c.2741C>G MANE Select	NP_000074.3:p.Pro914Arg
NR_046453.2:n.2696C>G