Canonical Allele Identifier: CA369643971

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332770G>T , CM000669.2:g.143332770G>T	GRCh38
NC_000007.13:g.143029863G>T , CM000669.1:g.143029863G>T	GRCh37
NC_000007.12:g.142739985G>T	NCBI36
NG_009815.1:g.21645G>T
NG_009815.2:g.21645G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1298G>T MANE Select	NP_000074.3:p.Trp433Leu
ENST00000343257.7:c.1298G>T MANE Select	ENSP00000339867.2:p.Trp433Leu
NM_000083.2:c.1298G>T	NP_000074.2:p.Trp433Leu
NR_046453.1:n.1341+267G>T
NR_046453.2:n.1356+267G>T
ENST00000343257.6:c.1298G>T	ENSP00000339867.2:p.Trp433Leu
ENST00000432192.6:c.1122G>T
ENST00000650516.2:c.1298G>T	ENSP00000498052.2:p.Trp433Leu
XM_011515781.1:c.1322G>T	XP_011514083.1:p.Trp441Leu
XM_011515782.1:c.44G>T	XP_011514084.1:p.Trp15Leu
XM_011515782.2:c.44G>T	XP_011514084.1:p.Trp15Leu
XM_017011739.1:c.872G>T	XP_016867228.1:p.Trp291Leu
XM_017011740.1:c.848G>T	XP_016867229.1:p.Trp283Leu