Canonical Allele Identifier: CA458280537

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143330800-C-T
• MyVariant Identifiers: chr7:g.143027893C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330800C>T , CM000669.2:g.143330800C>T	GRCh38
NC_000007.13:g.143027893C>T , CM000669.1:g.143027893C>T	GRCh37
NC_000007.12:g.142738015C>T	NCBI36
NG_009815.1:g.19675C>T
NG_009815.2:g.19675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.882C>T	ENSP00000498052.2:p.Ser294=
ENST00000343257.7:c.882C>T MANE Select	ENSP00000339867.2:p.Ser294=
ENST00000432192.6:c.706C>T
ENST00000455478.6:c.470C>T	ENSP00000400027.2:n.470C>T
ENST00000650516.1:c.882C>T	ENSP00000498052.1:p.Ser294=
ENST00000343257.6:c.882C>T	ENSP00000339867.2:p.Ser294=
ENST00000432192.5:c.396C>T
ENST00000455478.5:c.474C>T
ENST00000495612.1:n.183C>T
NM_000083.2:c.882C>T	NP_000074.2:p.Ser294=
NR_046453.1:n.972C>T
XM_011515781.1:c.882C>T	XP_011514083.1:p.Ser294=
XM_017011739.1:c.432C>T	XP_016867228.1:p.Ser144=
XM_017011740.1:c.432C>T	XP_016867229.1:p.Ser144=
NM_000083.3:c.882C>T MANE Select	NP_000074.3:p.Ser294=
NR_046453.2:n.987C>T