Canonical Allele Identifier: CA2579050780

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332526-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332526T>G , CM000669.2:g.143332526T>G	GRCh38
NC_000007.13:g.143029619T>G , CM000669.1:g.143029619T>G	GRCh37
NC_000007.12:g.142739741T>G	NCBI36
NG_009815.1:g.21401T>G
NG_009815.2:g.21401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1251+23T>G	ENSP00000498052.2:n.1251+23T>G
ENST00000343257.7:c.1251+23T>G MANE Select	ENSP00000339867.2:n.1251+23T>G
ENST00000432192.6:c.1075+23T>G
ENST00000343257.6:c.1251+23T>G	ENSP00000339867.2:n.1251+23T>G
NM_000083.2:c.1251+23T>G	NP_000074.2:n.1251+23T>G
NR_046453.1:n.1341+23T>G
XM_011515781.1:c.1274T>G	XP_011514083.1:p.Met425Arg
XM_011515782.1:c.-3-198T>G	XP_011514084.1:n.-3-198T>G
XM_011515782.2:c.-3-198T>G	XP_011514084.1:n.-3-198T>G
XM_017011739.1:c.824T>G	XP_016867228.1:p.Met275Arg
XM_017011740.1:c.801+23T>G	XP_016867229.1:n.801+23T>G
NM_000083.3:c.1251+23T>G MANE Select	NP_000074.3:n.1251+23T>G
NR_046453.2:n.1356+23T>G