Canonical Allele Identifier: CA458283288

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039068T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341975T>A , CM000669.2:g.143341975T>A	GRCh38
NC_000007.13:g.143039068T>A , CM000669.1:g.143039068T>A	GRCh37
NC_000007.12:g.142749190T>A	NCBI36
NG_009815.1:g.30850T>A
NG_009815.2:g.30850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1629T>A	ENSP00000498052.2:p.Ala543=
ENST00000343257.7:c.1629T>A MANE Select	ENSP00000339867.2:p.Ala543=
ENST00000432192.6:c.1453T>A
ENST00000343257.6:c.1629T>A	ENSP00000339867.2:p.Ala543=
NM_000083.2:c.1629T>A	NP_000074.2:p.Ala543=
NR_046453.1:n.1569T>A
XM_011515781.1:c.1653T>A	XP_011514083.1:p.Ala551=
XM_011515782.1:c.375T>A	XP_011514084.1:p.Ala125=
XM_011515782.2:c.375T>A	XP_011514084.1:p.Ala125=
XM_017011739.1:c.1203T>A	XP_016867228.1:p.Ala401=
XM_017011740.1:c.1179T>A	XP_016867229.1:p.Ala393=
NM_000083.3:c.1629T>A MANE Select	NP_000074.3:p.Ala543=
NR_046453.2:n.1584T>A