Canonical Allele Identifier: CA458281059

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143028208A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331115A>T , CM000669.2:g.143331115A>T	GRCh38
NC_000007.13:g.143028208A>T , CM000669.1:g.143028208A>T	GRCh37
NC_000007.12:g.142738330A>T	NCBI36
NG_009815.1:g.19990A>T
NG_009815.2:g.19990A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-117A>T	ENSP00000498052.2:n.980-117A>T
ENST00000343257.7:c.980-117A>T MANE Select	ENSP00000339867.2:n.980-117A>T
ENST00000432192.6:c.804-117A>T
ENST00000343257.6:c.980-117A>T	ENSP00000339867.2:n.980-117A>T
NM_000083.2:c.980-117A>T	NP_000074.2:n.980-117A>T
NR_046453.1:n.1070-117A>T
XM_011515781.1:c.980-117A>T	XP_011514083.1:n.980-117A>T
XM_017011739.1:c.530-117A>T	XP_016867228.1:n.530-117A>T
XM_017011740.1:c.530-117A>T	XP_016867229.1:n.530-117A>T
NM_000083.3:c.980-117A>T MANE Select	NP_000074.3:n.980-117A>T
NR_046453.2:n.1085-117A>T