Canonical Allele Identifier: CA168221841

Gene: CLCN1

Linked Data

• dbSNP Id: rs973512138
• gnomAD v3: 7-143342205-A-G
• gnomAD v4: 7-143342205-A-G
• MyVariant Identifiers: chr7:g.143039298A>G (hg19) ; chr7:g.143342205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342205A>G , CM000669.2:g.143342205A>G	GRCh38
NC_000007.13:g.143039298A>G , CM000669.1:g.143039298A>G	GRCh37
NC_000007.12:g.142749420A>G	NCBI36
NG_009815.1:g.31080A>G
NG_009815.2:g.31080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+63A>G	ENSP00000498052.2:n.1796+63A>G
ENST00000343257.7:c.1796+63A>G MANE Select	ENSP00000339867.2:n.1796+63A>G
ENST00000432192.6:c.1620+63A>G
ENST00000343257.6:c.1796+63A>G	ENSP00000339867.2:n.1796+63A>G
NM_000083.2:c.1796+63A>G	NP_000074.2:n.1796+63A>G
NR_046453.1:n.1736+63A>G
XM_011515781.1:c.1820+63A>G	XP_011514083.1:n.1820+63A>G
XM_011515782.1:c.542+63A>G	XP_011514084.1:n.542+63A>G
XM_011515782.2:c.542+63A>G	XP_011514084.1:n.542+63A>G
XM_017011739.1:c.1370+63A>G	XP_016867228.1:n.1370+63A>G
XM_017011740.1:c.1346+63A>G	XP_016867229.1:n.1346+63A>G
NM_000083.3:c.1796+63A>G MANE Select	NP_000074.3:n.1796+63A>G
NR_046453.2:n.1751+63A>G