Canonical Allele Identifier: CA369645555

Gene: CLCN1

Genomic Alleles

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

Transcript Alleles

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