Canonical Allele Identifier: CA4537067

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323354A>T , CM000669.2:g.143323354A>T	GRCh38
NC_000007.13:g.143020447A>T , CM000669.1:g.143020447A>T	GRCh37
NC_000007.12:g.142730569A>T	NCBI36
NG_009815.1:g.12229A>T
NG_009815.2:g.12229A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.742A>T MANE Select	NP_000074.3:p.Lys248Ter
ENST00000343257.7:c.742A>T MANE Select	ENSP00000339867.2:p.Lys248Ter
NM_000083.2:c.742A>T	NP_000074.2:p.Lys248Ter
NR_046453.1:n.829A>T
NR_046453.2:n.844A>T
ENST00000343257.6:c.742A>T	ENSP00000339867.2:p.Lys248Ter
ENST00000432192.5:c.155-219A>T
ENST00000432192.6:c.465-219A>T
ENST00000455478.5:c.200A>T
ENST00000455478.6:c.196A>T	ENSP00000400027.2:p.Lys66Ter
ENST00000495612.1:n.154+1506A>T
ENST00000650516.1:c.742A>T	ENSP00000498052.1:p.Lys248Ter
ENST00000650516.2:c.742A>T	ENSP00000498052.2:p.Lys248Ter
XM_011515781.1:c.742A>T	XP_011514083.1:p.Lys248Ter
XM_017011739.1:c.403+1506A>T	XP_016867228.1:n.403+1506A>T
XM_017011740.1:c.403+1506A>T	XP_016867229.1:n.403+1506A>T