Canonical Allele Identifier: CA458280560

Gene: CLCN1

Linked Data

• dbSNP Id: rs1292002715
• MyVariant Identifiers: chr7:g.143027935A>G (hg19) ; chr7:g.143330842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330842A>G , CM000669.2:g.143330842A>G	GRCh38
NC_000007.13:g.143027935A>G , CM000669.1:g.143027935A>G	GRCh37
NC_000007.12:g.142738057A>G	NCBI36
NG_009815.1:g.19717A>G
NG_009815.2:g.19717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.924A>G	ENSP00000498052.2:p.Ala308=
ENST00000343257.7:c.924A>G MANE Select	ENSP00000339867.2:p.Ala308=
ENST00000432192.6:c.748A>G
ENST00000455478.6:c.512A>G	ENSP00000400027.2:n.512A>G
ENST00000650516.1:c.924A>G	ENSP00000498052.1:p.Ala308=
ENST00000343257.6:c.924A>G	ENSP00000339867.2:p.Ala308=
ENST00000432192.5:c.438A>G
ENST00000455478.5:c.516A>G
ENST00000495612.1:n.225A>G
NM_000083.2:c.924A>G	NP_000074.2:p.Ala308=
NR_046453.1:n.1014A>G
XM_011515781.1:c.924A>G	XP_011514083.1:p.Ala308=
XM_017011739.1:c.474A>G	XP_016867228.1:p.Ala158=
XM_017011740.1:c.474A>G	XP_016867229.1:p.Ala158=
NM_000083.3:c.924A>G MANE Select	NP_000074.3:p.Ala308=
NR_046453.2:n.1029A>G