Canonical Allele Identifier: CA4537181

Gene: CLCN1

Linked Data

• dbSNP Id: rs781728156
• ExAC: 7:143027964 T / G
• gnomAD v2: 7-143027964-T-G
• gnomAD v4: 7-143330871-T-G
• MyVariant Identifiers: chr7:g.143027964T>G (hg19) ; chr7:g.143330871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330871T>G , CM000669.2:g.143330871T>G	GRCh38
NC_000007.13:g.143027964T>G , CM000669.1:g.143027964T>G	GRCh37
NC_000007.12:g.142738086T>G	NCBI36
NG_009815.1:g.19746T>G
NG_009815.2:g.19746T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.953T>G	ENSP00000498052.2:p.Val318Gly
ENST00000343257.7:c.953T>G MANE Select	ENSP00000339867.2:p.Val318Gly
ENST00000432192.6:c.777T>G
ENST00000455478.6:c.541T>G	ENSP00000400027.2:n.541T>G
ENST00000650516.1:c.953T>G	ENSP00000498052.1:p.Val318Gly
ENST00000343257.6:c.953T>G	ENSP00000339867.2:p.Val318Gly
ENST00000432192.5:c.467T>G
ENST00000455478.5:c.545T>G
ENST00000495612.1:n.254T>G
NM_000083.2:c.953T>G	NP_000074.2:p.Val318Gly
NR_046453.1:n.1043T>G
XM_011515781.1:c.953T>G	XP_011514083.1:p.Val318Gly
XM_017011739.1:c.503T>G	XP_016867228.1:p.Val168Gly
XM_017011740.1:c.503T>G	XP_016867229.1:p.Val168Gly
NM_000083.3:c.953T>G MANE Select	NP_000074.3:p.Val318Gly
NR_046453.2:n.1058T>G