Canonical Allele Identifier: CA458282862

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803012796
• MyVariant Identifiers: chr7:g.143036390A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339297A>T , CM000669.2:g.143339297A>T	GRCh38
NC_000007.13:g.143036390A>T , CM000669.1:g.143036390A>T	GRCh37
NC_000007.12:g.142746512A>T	NCBI36
NG_009815.1:g.28172A>T
NG_009815.2:g.28172A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1446A>T	ENSP00000498052.2:p.Gly482=
ENST00000343257.7:c.1446A>T MANE Select	ENSP00000339867.2:p.Gly482=
ENST00000432192.6:c.1270A>T
ENST00000343257.6:c.1446A>T	ENSP00000339867.2:p.Gly482=
NM_000083.2:c.1446A>T	NP_000074.2:p.Gly482=
NR_046453.1:n.1386A>T
XM_011515781.1:c.1470A>T	XP_011514083.1:p.Gly490=
XM_011515782.1:c.192A>T	XP_011514084.1:p.Gly64=
XM_011515782.2:c.192A>T	XP_011514084.1:p.Gly64=
XM_017011739.1:c.1020A>T	XP_016867228.1:p.Gly340=
XM_017011740.1:c.996A>T	XP_016867229.1:p.Gly332=
NM_000083.3:c.1446A>T MANE Select	NP_000074.3:p.Gly482=
NR_046453.2:n.1401A>T