Canonical Allele Identifier: CA369643834

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332749-C-G
• MyVariant Identifiers: chr7:g.143029842C>G (hg19) ; chr7:g.143332749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332749C>G , CM000669.2:g.143332749C>G	GRCh38
NC_000007.13:g.143029842C>G , CM000669.1:g.143029842C>G	GRCh37
NC_000007.12:g.142739964C>G	NCBI36
NG_009815.1:g.21624C>G
NG_009815.2:g.21624C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1277C>G	ENSP00000498052.2:p.Thr426Ser
ENST00000343257.7:c.1277C>G MANE Select	ENSP00000339867.2:p.Thr426Ser
ENST00000432192.6:c.1101C>G
ENST00000343257.6:c.1277C>G	ENSP00000339867.2:p.Thr426Ser
NM_000083.2:c.1277C>G	NP_000074.2:p.Thr426Ser
NR_046453.1:n.1341+246C>G
XM_011515781.1:c.1301C>G	XP_011514083.1:p.Thr434Ser
XM_011515782.1:c.23C>G	XP_011514084.1:p.Thr8Ser
XM_011515782.2:c.23C>G	XP_011514084.1:p.Thr8Ser
XM_017011739.1:c.851C>G	XP_016867228.1:p.Thr284Ser
XM_017011740.1:c.827C>G	XP_016867229.1:p.Thr276Ser
NM_000083.3:c.1277C>G MANE Select	NP_000074.3:p.Thr426Ser
NR_046453.2:n.1356+246C>G