Canonical Allele Identifier: CA458542525

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351746-C-T
• MyVariant Identifiers: chr7:g.143048839C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351746C>T , CM000669.2:g.143351746C>T	GRCh38
NC_000007.13:g.143048839C>T , CM000669.1:g.143048839C>T	GRCh37
NC_000007.12:g.142758961C>T	NCBI36
NG_009815.1:g.40621C>T
NG_009815.2:g.40621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2748C>T	ENSP00000498052.2:p.Ala916=
ENST00000343257.7:c.2748C>T MANE Select	ENSP00000339867.2:p.Ala916=
ENST00000343257.6:c.2748C>T	ENSP00000339867.2:p.Ala916=
NM_000083.2:c.2748C>T	NP_000074.2:p.Ala916=
NR_046453.1:n.2688C>T
XM_011515781.1:c.2772C>T	XP_011514083.1:p.Ala924=
XM_011515782.1:c.1494C>T	XP_011514084.1:p.Ala498=
XM_011515782.2:c.1494C>T	XP_011514084.1:p.Ala498=
XM_017011739.1:c.2322C>T	XP_016867228.1:p.Ala774=
XM_017011740.1:c.2298C>T	XP_016867229.1:p.Ala766=
NM_000083.3:c.2748C>T MANE Select	NP_000074.3:p.Ala916=
NR_046453.2:n.2703C>T