Canonical Allele Identifier: CA458283199

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039023A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341930A>C , CM000669.2:g.143341930A>C	GRCh38
NC_000007.13:g.143039023A>C , CM000669.1:g.143039023A>C	GRCh37
NC_000007.12:g.142749145A>C	NCBI36
NG_009815.1:g.30805A>C
NG_009815.2:g.30805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1584A>C	ENSP00000498052.2:p.Gly528=
ENST00000343257.7:c.1584A>C MANE Select	ENSP00000339867.2:p.Gly528=
ENST00000432192.6:c.1408A>C
ENST00000343257.6:c.1584A>C	ENSP00000339867.2:p.Gly528=
NM_000083.2:c.1584A>C	NP_000074.2:p.Gly528=
NR_046453.1:n.1524A>C
XM_011515781.1:c.1608A>C	XP_011514083.1:p.Gly536=
XM_011515782.1:c.330A>C	XP_011514084.1:p.Gly110=
XM_011515782.2:c.330A>C	XP_011514084.1:p.Gly110=
XM_017011739.1:c.1158A>C	XP_016867228.1:p.Gly386=
XM_017011740.1:c.1134A>C	XP_016867229.1:p.Gly378=
NM_000083.3:c.1584A>C MANE Select	NP_000074.3:p.Gly528=
NR_046453.2:n.1539A>C