Canonical Allele Identifier: CA4537701

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350463C>T , CM000669.2:g.143350463C>T	GRCh38
NC_000007.13:g.143047556C>T , CM000669.1:g.143047556C>T	GRCh37
NC_000007.12:g.142757678C>T	NCBI36
NG_009815.1:g.39338C>T
NG_009815.2:g.39338C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2495C>T MANE Select	NP_000074.3:p.Thr832Ile
ENST00000343257.7:c.2495C>T MANE Select	ENSP00000339867.2:p.Thr832Ile
NM_000083.2:c.2495C>T	NP_000074.2:p.Thr832Ile
NR_046453.1:n.2435C>T
NR_046453.2:n.2450C>T
ENST00000343257.6:c.2495C>T	ENSP00000339867.2:p.Thr832Ile
ENST00000432192.6:c.2319C>T
ENST00000650516.2:c.2495C>T	ENSP00000498052.2:p.Thr832Ile
XM_011515781.1:c.2519C>T	XP_011514083.1:p.Thr840Ile
XM_011515782.1:c.1241C>T	XP_011514084.1:p.Thr414Ile
XM_011515782.2:c.1241C>T	XP_011514084.1:p.Thr414Ile
XM_017011739.1:c.2069C>T	XP_016867228.1:p.Thr690Ile
XM_017011740.1:c.2045C>T	XP_016867229.1:p.Thr682Ile