Canonical Allele Identifier: CA458282185

Gene: CLCN1

Linked Data

• dbSNP Id: rs1472138354
• MyVariant Identifiers: chr7:g.143029819G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332726G>A , CM000669.2:g.143332726G>A	GRCh38
NC_000007.13:g.143029819G>A , CM000669.1:g.143029819G>A	GRCh37
NC_000007.12:g.142739941G>A	NCBI36
NG_009815.1:g.21601G>A
NG_009815.2:g.21601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1254G>A	ENSP00000498052.2:p.Leu418=
ENST00000343257.7:c.1254G>A MANE Select	ENSP00000339867.2:p.Leu418=
ENST00000432192.6:c.1078G>A
ENST00000343257.6:c.1254G>A	ENSP00000339867.2:p.Leu418=
NM_000083.2:c.1254G>A	NP_000074.2:p.Leu418=
NR_046453.1:n.1341+223G>A
XM_011515781.1:c.1278G>A	XP_011514083.1:p.Leu426=
XM_011515782.1:c.-1G>A	XP_011514084.1:n.-1G>A
XM_011515782.2:c.-1G>A	XP_011514084.1:n.-1G>A
XM_017011739.1:c.828G>A	XP_016867228.1:p.Leu276=
XM_017011740.1:c.804G>A	XP_016867229.1:p.Leu268=
NM_000083.3:c.1254G>A MANE Select	NP_000074.3:p.Leu418=
NR_046453.2:n.1356+223G>A