Canonical Allele Identifier: CA369645557

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339521T>A , CM000669.2:g.143339521T>A	GRCh38
NC_000007.13:g.143036614T>A , CM000669.1:g.143036614T>A	GRCh37
NC_000007.12:g.142746736T>A	NCBI36
NG_009815.1:g.28396T>A
NG_009815.2:g.28396T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1482T>A	ENSP00000498052.2:p.Phe494Leu
ENST00000343257.7:c.1482T>A MANE Select	ENSP00000339867.2:p.Phe494Leu
ENST00000432192.6:c.1306T>A
ENST00000343257.6:c.1482T>A	ENSP00000339867.2:p.Phe494Leu
NM_000083.2:c.1482T>A	NP_000074.2:p.Phe494Leu
NR_046453.1:n.1422T>A
XM_011515781.1:c.1506T>A	XP_011514083.1:p.Phe502Leu
XM_011515782.1:c.228T>A	XP_011514084.1:p.Phe76Leu
XM_011515782.2:c.228T>A	XP_011514084.1:p.Phe76Leu
XM_017011739.1:c.1056T>A	XP_016867228.1:p.Phe352Leu
XM_017011740.1:c.1032T>A	XP_016867229.1:p.Phe344Leu
NM_000083.3:c.1482T>A MANE Select	NP_000074.3:p.Phe494Leu
NR_046453.2:n.1437T>A