Canonical Allele Identifier: CA458282894

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339527-G-A
• MyVariant Identifiers: chr7:g.143036620G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339527G>A , CM000669.2:g.143339527G>A	GRCh38
NC_000007.13:g.143036620G>A , CM000669.1:g.143036620G>A	GRCh37
NC_000007.12:g.142746742G>A	NCBI36
NG_009815.1:g.28402G>A
NG_009815.2:g.28402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1488G>A	ENSP00000498052.2:p.Arg496=
ENST00000343257.7:c.1488G>A MANE Select	ENSP00000339867.2:p.Arg496=
ENST00000432192.6:c.1312G>A
ENST00000343257.6:c.1488G>A	ENSP00000339867.2:p.Arg496=
NM_000083.2:c.1488G>A	NP_000074.2:p.Arg496=
NR_046453.1:n.1428G>A
XM_011515781.1:c.1512G>A	XP_011514083.1:p.Arg504=
XM_011515782.1:c.234G>A	XP_011514084.1:p.Arg78=
XM_011515782.2:c.234G>A	XP_011514084.1:p.Arg78=
XM_017011739.1:c.1062G>A	XP_016867228.1:p.Arg354=
XM_017011740.1:c.1038G>A	XP_016867229.1:p.Arg346=
NM_000083.3:c.1488G>A MANE Select	NP_000074.3:p.Arg496=
NR_046453.2:n.1443G>A