Canonical Allele Identifier: CA369645644

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339542-C-G
• MyVariant Identifiers: chr7:g.143036635C>G (hg19) ; chr7:g.143339542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339542C>G , CM000669.2:g.143339542C>G	GRCh38
NC_000007.13:g.143036635C>G , CM000669.1:g.143036635C>G	GRCh37
NC_000007.12:g.142746757C>G	NCBI36
NG_009815.1:g.28417C>G
NG_009815.2:g.28417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1503C>G	ENSP00000498052.2:p.Ile501Met
ENST00000343257.7:c.1503C>G MANE Select	ENSP00000339867.2:p.Ile501Met
ENST00000432192.6:c.1327C>G
ENST00000343257.6:c.1503C>G	ENSP00000339867.2:p.Ile501Met
NM_000083.2:c.1503C>G	NP_000074.2:p.Ile501Met
NR_046453.1:n.1443C>G
XM_011515781.1:c.1527C>G	XP_011514083.1:p.Ile509Met
XM_011515782.1:c.249C>G	XP_011514084.1:p.Ile83Met
XM_011515782.2:c.249C>G	XP_011514084.1:p.Ile83Met
XM_017011739.1:c.1077C>G	XP_016867228.1:p.Ile359Met
XM_017011740.1:c.1053C>G	XP_016867229.1:p.Ile351Met
NM_000083.3:c.1503C>G MANE Select	NP_000074.3:p.Ile501Met
NR_046453.2:n.1458C>G