Canonical Allele Identifier: CA369645212

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339255-C-A
• MyVariant Identifiers: chr7:g.143036348C>A (hg19) ; chr7:g.143339255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339255C>A , CM000669.2:g.143339255C>A	GRCh38
NC_000007.13:g.143036348C>A , CM000669.1:g.143036348C>A	GRCh37
NC_000007.12:g.142746470C>A	NCBI36
NG_009815.1:g.28130C>A
NG_009815.2:g.28130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1404C>A	ENSP00000498052.2:p.Phe468Leu
ENST00000343257.7:c.1404C>A MANE Select	ENSP00000339867.2:p.Phe468Leu
ENST00000432192.6:c.1228C>A
ENST00000343257.6:c.1404C>A	ENSP00000339867.2:p.Phe468Leu
NM_000083.2:c.1404C>A	NP_000074.2:p.Phe468Leu
NR_046453.1:n.1344C>A
XM_011515781.1:c.1428C>A	XP_011514083.1:p.Phe476Leu
XM_011515782.1:c.150C>A	XP_011514084.1:p.Phe50Leu
XM_011515782.2:c.150C>A	XP_011514084.1:p.Phe50Leu
XM_017011739.1:c.978C>A	XP_016867228.1:p.Phe326Leu
XM_017011740.1:c.954C>A	XP_016867229.1:p.Phe318Leu
NM_000083.3:c.1404C>A MANE Select	NP_000074.3:p.Phe468Leu
NR_046453.2:n.1359C>A