Canonical Allele Identifier: CA369676375

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143316225C>T , CM000669.2:g.143316225C>T	GRCh38
NC_000007.13:g.143013318C>T , CM000669.1:g.143013318C>T	GRCh37
NC_000007.12:g.142723440C>T	NCBI36
NG_009815.1:g.5100C>T
NG_009815.2:g.5100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.13C>T MANE Select	NP_000074.3:p.Arg5Trp
ENST00000343257.7:c.13C>T MANE Select	ENSP00000339867.2:p.Arg5Trp
NM_000083.2:c.13C>T	NP_000074.2:p.Arg5Trp
NR_046453.1:n.100C>T
NR_046453.2:n.115C>T
ENST00000343257.6:c.13C>T	ENSP00000339867.2:p.Arg5Trp
ENST00000650516.1:c.13C>T	ENSP00000498052.1:p.Arg5Trp
ENST00000650516.2:c.13C>T	ENSP00000498052.2:p.Arg5Trp
XM_011515781.1:c.13C>T	XP_011514083.1:p.Arg5Trp