Canonical Allele Identifier: CA458542114

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018854G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321761G>C , CM000669.2:g.143321761G>C	GRCh38
NC_000007.13:g.143018854G>C , CM000669.1:g.143018854G>C	GRCh37
NC_000007.12:g.142728976G>C	NCBI36
NG_009815.1:g.10636G>C
NG_009815.2:g.10636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.609G>C	ENSP00000498052.2:p.Leu203=
ENST00000343257.7:c.609G>C MANE Select	ENSP00000339867.2:p.Leu203=
ENST00000432192.6:c.377G>C
ENST00000455478.6:c.63G>C	ENSP00000400027.2:p.Leu21=
ENST00000650516.1:c.609G>C	ENSP00000498052.1:p.Leu203=
ENST00000343257.6:c.609G>C	ENSP00000339867.2:p.Leu203=
ENST00000432192.5:c.67G>C
ENST00000455478.5:c.67G>C
ENST00000495612.1:n.67G>C
NM_000083.2:c.609G>C	NP_000074.2:p.Leu203=
NR_046453.1:n.696G>C
XM_011515781.1:c.609G>C	XP_011514083.1:p.Leu203=
XM_017011739.1:c.316G>C	XP_016867228.1:p.Glu106Gln
XM_017011740.1:c.316G>C	XP_016867229.1:p.Glu106Gln
NM_000083.3:c.609G>C MANE Select	NP_000074.3:p.Leu203=
NR_046453.2:n.711G>C