Canonical Allele Identifier: CA458542098

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321752-G-A
• MyVariant Identifiers: chr7:g.143018845G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321752G>A , CM000669.2:g.143321752G>A	GRCh38
NC_000007.13:g.143018845G>A , CM000669.1:g.143018845G>A	GRCh37
NC_000007.12:g.142728967G>A	NCBI36
NG_009815.1:g.10627G>A
NG_009815.2:g.10627G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.600G>A	ENSP00000498052.2:p.Gly200=
ENST00000343257.7:c.600G>A MANE Select	ENSP00000339867.2:p.Gly200=
ENST00000432192.6:c.368G>A
ENST00000455478.6:c.54G>A	ENSP00000400027.2:p.Gly18=
ENST00000650516.1:c.600G>A	ENSP00000498052.1:p.Gly200=
ENST00000343257.6:c.600G>A	ENSP00000339867.2:p.Gly200=
ENST00000432192.5:c.58G>A
ENST00000455478.5:c.58G>A
ENST00000495612.1:n.58G>A
NM_000083.2:c.600G>A	NP_000074.2:p.Gly200=
NR_046453.1:n.687G>A
XM_011515781.1:c.600G>A	XP_011514083.1:p.Gly200=
XM_017011739.1:c.307G>A	XP_016867228.1:p.Gly103Ser
XM_017011740.1:c.307G>A	XP_016867229.1:p.Gly103Ser
NM_000083.3:c.600G>A MANE Select	NP_000074.3:p.Gly200=
NR_046453.2:n.702G>A