Canonical Allele Identifier: CA458542527

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351882-C-T
• MyVariant Identifiers: chr7:g.143048975C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351882C>T , CM000669.2:g.143351882C>T	GRCh38
NC_000007.13:g.143048975C>T , CM000669.1:g.143048975C>T	GRCh37
NC_000007.12:g.142759097C>T	NCBI36
NG_009815.1:g.40757C>T
NG_009815.2:g.40757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2884C>T	ENSP00000498052.2:p.Leu962=
ENST00000343257.7:c.2884C>T MANE Select	ENSP00000339867.2:p.Leu962=
ENST00000343257.6:c.2884C>T	ENSP00000339867.2:p.Leu962=
NM_000083.2:c.2884C>T	NP_000074.2:p.Leu962=
NR_046453.1:n.2824C>T
XM_011515781.1:c.2908C>T	XP_011514083.1:p.Leu970=
XM_011515782.1:c.1630C>T	XP_011514084.1:p.Leu544=
XM_011515782.2:c.1630C>T	XP_011514084.1:p.Leu544=
XM_017011739.1:c.2458C>T	XP_016867228.1:p.Leu820=
XM_017011740.1:c.2434C>T	XP_016867229.1:p.Leu812=
NM_000083.3:c.2884C>T MANE Select	NP_000074.3:p.Leu962=
NR_046453.2:n.2839C>T