Canonical Allele Identifier: CA369641520

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2583181
• ClinVar RCV Id: RCV003334472
• MyVariant Identifiers: chr7:g.143027880T>C (hg19) ; chr7:g.143330787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330787T>C , CM000669.2:g.143330787T>C	GRCh38
NC_000007.13:g.143027880T>C , CM000669.1:g.143027880T>C	GRCh37
NC_000007.12:g.142738002T>C	NCBI36
NG_009815.1:g.19662T>C
NG_009815.2:g.19662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.869T>C	ENSP00000498052.2:p.Ile290Thr
ENST00000343257.7:c.869T>C MANE Select	ENSP00000339867.2:p.Ile290Thr
ENST00000432192.6:c.693T>C
ENST00000455478.6:c.457T>C	ENSP00000400027.2:n.457T>C
ENST00000650516.1:c.869T>C	ENSP00000498052.1:p.Ile290Thr
ENST00000343257.6:c.869T>C	ENSP00000339867.2:p.Ile290Thr
ENST00000432192.5:c.383T>C
ENST00000455478.5:c.461T>C
ENST00000495612.1:n.170T>C
NM_000083.2:c.869T>C	NP_000074.2:p.Ile290Thr
NR_046453.1:n.959T>C
XM_011515781.1:c.869T>C	XP_011514083.1:p.Ile290Thr
XM_017011739.1:c.419T>C	XP_016867228.1:p.Ile140Thr
XM_017011740.1:c.419T>C	XP_016867229.1:p.Ile140Thr
NM_000083.3:c.869T>C MANE Select	NP_000074.3:p.Ile290Thr
NR_046453.2:n.974T>C