Canonical Allele Identifier: CA2839969813

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330709G>T , CM000669.2:g.143330709G>T	GRCh38
NC_000007.13:g.143027802G>T , CM000669.1:g.143027802G>T	GRCh37
NC_000007.12:g.142737924G>T	NCBI36
NG_009815.1:g.19584G>T
NG_009815.2:g.19584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.854-63G>T	ENSP00000498052.2:n.854-63G>T
ENST00000343257.7:c.854-63G>T MANE Select	ENSP00000339867.2:n.854-63G>T
ENST00000432192.6:c.678-63G>T
ENST00000455478.6:c.442-63G>T	ENSP00000400027.2:n.442-63G>T
ENST00000650516.1:c.854-63G>T	ENSP00000498052.1:n.854-63G>T
ENST00000343257.6:c.854-63G>T	ENSP00000339867.2:n.854-63G>T
ENST00000432192.5:c.368-63G>T
ENST00000455478.5:c.446-63G>T
ENST00000495612.1:n.155-63G>T
NM_000083.2:c.854-63G>T	NP_000074.2:n.854-63G>T
NR_046453.1:n.944-63G>T
XM_011515781.1:c.854-63G>T	XP_011514083.1:n.854-63G>T
XM_017011739.1:c.404-63G>T	XP_016867228.1:n.404-63G>T
XM_017011740.1:c.404-63G>T	XP_016867229.1:n.404-63G>T
NM_000083.3:c.854-63G>T MANE Select	NP_000074.3:n.854-63G>T
NR_046453.2:n.959-63G>T