Canonical Allele Identifier: CA369683321

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321373T>C , CM000669.2:g.143321373T>C	GRCh38
NC_000007.13:g.143018466T>C , CM000669.1:g.143018466T>C	GRCh37
NC_000007.12:g.142728588T>C	NCBI36
NG_009815.1:g.10248T>C
NG_009815.2:g.10248T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.442T>C MANE Select	NP_000074.3:p.Trp148Arg
ENST00000343257.7:c.442T>C MANE Select	ENSP00000339867.2:p.Trp148Arg
NM_000083.2:c.442T>C	NP_000074.2:p.Trp148Arg
NR_046453.1:n.529T>C
NR_046453.2:n.544T>C
ENST00000343257.6:c.442T>C	ENSP00000339867.2:p.Trp148Arg
ENST00000432192.6:c.210T>C
ENST00000650516.1:c.442T>C	ENSP00000498052.1:p.Trp148Arg
ENST00000650516.2:c.442T>C	ENSP00000498052.2:p.Trp148Arg
XM_011515781.1:c.442T>C	XP_011514083.1:p.Trp148Arg
XM_017011739.1:c.149T>C	XP_016867228.1:p.Val50Ala
XM_017011740.1:c.149T>C	XP_016867229.1:p.Val50Ala