Canonical Allele Identifier: CA369643537

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332490T>A , CM000669.2:g.143332490T>A	GRCh38
NC_000007.13:g.143029583T>A , CM000669.1:g.143029583T>A	GRCh37
NC_000007.12:g.142739705T>A	NCBI36
NG_009815.1:g.21365T>A
NG_009815.2:g.21365T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1238T>A MANE Select	NP_000074.3:p.Phe413Tyr
ENST00000343257.7:c.1238T>A MANE Select	ENSP00000339867.2:p.Phe413Tyr
NM_000083.2:c.1238T>A	NP_000074.2:p.Phe413Tyr
NR_046453.1:n.1328T>A
NR_046453.2:n.1343T>A
ENST00000343257.6:c.1238T>A	ENSP00000339867.2:p.Phe413Tyr
ENST00000432192.6:c.1062T>A
ENST00000650516.2:c.1238T>A	ENSP00000498052.2:p.Phe413Tyr
XM_011515781.1:c.1238T>A	XP_011514083.1:p.Phe413Tyr
XM_011515782.1:c.-3-234T>A	XP_011514084.1:n.-3-234T>A
XM_011515782.2:c.-3-234T>A	XP_011514084.1:n.-3-234T>A
XM_017011739.1:c.788T>A	XP_016867228.1:p.Phe263Tyr
XM_017011740.1:c.788T>A	XP_016867229.1:p.Phe263Tyr