Canonical Allele Identifier: CA369641643

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027939A>C (hg19) ; chr7:g.143330846A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330846A>C , CM000669.2:g.143330846A>C	GRCh38
NC_000007.13:g.143027939A>C , CM000669.1:g.143027939A>C	GRCh37
NC_000007.12:g.142738061A>C	NCBI36
NG_009815.1:g.19721A>C
NG_009815.2:g.19721A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.928A>C	ENSP00000498052.2:p.Thr310Pro
ENST00000343257.7:c.928A>C MANE Select	ENSP00000339867.2:p.Thr310Pro
ENST00000432192.6:c.752A>C
ENST00000455478.6:c.516A>C	ENSP00000400027.2:n.516A>C
ENST00000650516.1:c.928A>C	ENSP00000498052.1:p.Thr310Pro
ENST00000343257.6:c.928A>C	ENSP00000339867.2:p.Thr310Pro
ENST00000432192.5:c.442A>C
ENST00000455478.5:c.520A>C
ENST00000495612.1:n.229A>C
NM_000083.2:c.928A>C	NP_000074.2:p.Thr310Pro
NR_046453.1:n.1018A>C
XM_011515781.1:c.928A>C	XP_011514083.1:p.Thr310Pro
XM_017011739.1:c.478A>C	XP_016867228.1:p.Thr160Pro
XM_017011740.1:c.478A>C	XP_016867229.1:p.Thr160Pro
NM_000083.3:c.928A>C MANE Select	NP_000074.3:p.Thr310Pro
NR_046453.2:n.1033A>C