Canonical Allele Identifier: CA369645634

Gene: CLCN1

Linked Data

• dbSNP Id: rs1586507959
• MyVariant Identifiers: chr7:g.143036633A>G (hg19) ; chr7:g.143339540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339540A>G , CM000669.2:g.143339540A>G	GRCh38
NC_000007.13:g.143036633A>G , CM000669.1:g.143036633A>G	GRCh37
NC_000007.12:g.142746755A>G	NCBI36
NG_009815.1:g.28415A>G
NG_009815.2:g.28415A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1501A>G	ENSP00000498052.2:p.Ile501Val
ENST00000343257.7:c.1501A>G MANE Select	ENSP00000339867.2:p.Ile501Val
ENST00000432192.6:c.1325A>G
ENST00000343257.6:c.1501A>G	ENSP00000339867.2:p.Ile501Val
NM_000083.2:c.1501A>G	NP_000074.2:p.Ile501Val
NR_046453.1:n.1441A>G
XM_011515781.1:c.1525A>G	XP_011514083.1:p.Ile509Val
XM_011515782.1:c.247A>G	XP_011514084.1:p.Ile83Val
XM_011515782.2:c.247A>G	XP_011514084.1:p.Ile83Val
XM_017011739.1:c.1075A>G	XP_016867228.1:p.Ile359Val
XM_017011740.1:c.1051A>G	XP_016867229.1:p.Ile351Val
NM_000083.3:c.1501A>G MANE Select	NP_000074.3:p.Ile501Val
NR_046453.2:n.1456A>G