Canonical Allele Identifier: CA458283208

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039029A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341936A>C , CM000669.2:g.143341936A>C	GRCh38
NC_000007.13:g.143039029A>C , CM000669.1:g.143039029A>C	GRCh37
NC_000007.12:g.142749151A>C	NCBI36
NG_009815.1:g.30811A>C
NG_009815.2:g.30811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1590A>C	ENSP00000498052.2:p.Ala530=
ENST00000343257.7:c.1590A>C MANE Select	ENSP00000339867.2:p.Ala530=
ENST00000432192.6:c.1414A>C
ENST00000343257.6:c.1590A>C	ENSP00000339867.2:p.Ala530=
NM_000083.2:c.1590A>C	NP_000074.2:p.Ala530=
NR_046453.1:n.1530A>C
XM_011515781.1:c.1614A>C	XP_011514083.1:p.Ala538=
XM_011515782.1:c.336A>C	XP_011514084.1:p.Ala112=
XM_011515782.2:c.336A>C	XP_011514084.1:p.Ala112=
XM_017011739.1:c.1164A>C	XP_016867228.1:p.Ala388=
XM_017011740.1:c.1140A>C	XP_016867229.1:p.Ala380=
NM_000083.3:c.1590A>C MANE Select	NP_000074.3:p.Ala530=
NR_046453.2:n.1545A>C