Canonical Allele Identifier: CA369653453

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351607T>C , CM000669.2:g.143351607T>C	GRCh38
NC_000007.13:g.143048700T>C , CM000669.1:g.143048700T>C	GRCh37
NC_000007.12:g.142758822T>C	NCBI36
NG_009815.1:g.40482T>C
NG_009815.2:g.40482T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2609T>C MANE Select	NP_000074.3:p.Ile870Thr
ENST00000343257.7:c.2609T>C MANE Select	ENSP00000339867.2:p.Ile870Thr
NM_000083.2:c.2609T>C	NP_000074.2:p.Ile870Thr
NR_046453.1:n.2549T>C
NR_046453.2:n.2564T>C
ENST00000343257.6:c.2609T>C	ENSP00000339867.2:p.Ile870Thr
ENST00000432192.6:c.2433T>C
ENST00000650516.2:c.2609T>C	ENSP00000498052.2:p.Ile870Thr
XM_011515781.1:c.2633T>C	XP_011514083.1:p.Ile878Thr
XM_011515782.1:c.1355T>C	XP_011514084.1:p.Ile452Thr
XM_011515782.2:c.1355T>C	XP_011514084.1:p.Ile452Thr
XM_017011739.1:c.2183T>C	XP_016867228.1:p.Ile728Thr
XM_017011740.1:c.2159T>C	XP_016867229.1:p.Ile720Thr