Canonical Allele Identifier: CA369641738

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027984G>T (hg19) ; chr7:g.143330891G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330891G>T , CM000669.2:g.143330891G>T	GRCh38
NC_000007.13:g.143027984G>T , CM000669.1:g.143027984G>T	GRCh37
NC_000007.12:g.142738106G>T	NCBI36
NG_009815.1:g.19766G>T
NG_009815.2:g.19766G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.973G>T	ENSP00000498052.2:p.Asp325Tyr
ENST00000343257.7:c.973G>T MANE Select	ENSP00000339867.2:p.Asp325Tyr
ENST00000432192.6:c.797G>T
ENST00000455478.6:c.561G>T	ENSP00000400027.2:n.561G>T
ENST00000650516.1:c.973G>T	ENSP00000498052.1:p.Asp325Tyr
ENST00000343257.6:c.973G>T	ENSP00000339867.2:p.Asp325Tyr
ENST00000432192.5:c.487G>T
ENST00000455478.5:c.565G>T
ENST00000495612.1:n.274G>T
NM_000083.2:c.973G>T	NP_000074.2:p.Asp325Tyr
NR_046453.1:n.1063G>T
XM_011515781.1:c.973G>T	XP_011514083.1:p.Asp325Tyr
XM_017011739.1:c.523G>T	XP_016867228.1:p.Asp175Tyr
XM_017011740.1:c.523G>T	XP_016867229.1:p.Asp175Tyr
NM_000083.3:c.973G>T MANE Select	NP_000074.3:p.Asp325Tyr
NR_046453.2:n.1078G>T