Canonical Allele Identifier: CA458296336

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021581T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324488T>A , CM000669.2:g.143324488T>A	GRCh38
NC_000007.13:g.143021581T>A , CM000669.1:g.143021581T>A	GRCh37
NC_000007.12:g.142731703T>A	NCBI36
NG_009815.1:g.13363T>A
NG_009815.2:g.13363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+591T>A	ENSP00000498052.2:n.853+591T>A
ENST00000343257.7:c.849T>A MANE Select	ENSP00000339867.2:p.Leu283=
ENST00000432192.6:c.673T>A
ENST00000455478.6:c.437T>A	ENSP00000400027.2:n.437T>A
ENST00000650516.1:c.853+591T>A	ENSP00000498052.1:n.853+591T>A
ENST00000343257.6:c.849T>A	ENSP00000339867.2:p.Leu283=
ENST00000432192.5:c.363T>A
ENST00000455478.5:c.441T>A
ENST00000495612.1:n.154+2640T>A
NM_000083.2:c.849T>A	NP_000074.2:p.Leu283=
NR_046453.1:n.939T>A
XM_011515781.1:c.853+591T>A	XP_011514083.1:n.853+591T>A
XM_017011739.1:c.403+2640T>A	XP_016867228.1:n.403+2640T>A
XM_017011740.1:c.403+2640T>A	XP_016867229.1:n.403+2640T>A
NM_000083.3:c.849T>A MANE Select	NP_000074.3:p.Leu283=
NR_046453.2:n.954T>A