Canonical Allele Identifier: CA369684418

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018838T>A (hg19) ; chr7:g.143321745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321745T>A , CM000669.2:g.143321745T>A	GRCh38
NC_000007.13:g.143018838T>A , CM000669.1:g.143018838T>A	GRCh37
NC_000007.12:g.142728960T>A	NCBI36
NG_009815.1:g.10620T>A
NG_009815.2:g.10620T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.593T>A	ENSP00000498052.2:p.Leu198His
ENST00000343257.7:c.593T>A MANE Select	ENSP00000339867.2:p.Leu198His
ENST00000432192.6:c.361T>A
ENST00000455478.6:c.47T>A	ENSP00000400027.2:p.Leu16His
ENST00000650516.1:c.593T>A	ENSP00000498052.1:p.Leu198His
ENST00000343257.6:c.593T>A	ENSP00000339867.2:p.Leu198His
ENST00000432192.5:c.51T>A
ENST00000455478.5:c.51T>A
ENST00000495612.1:n.51T>A
NM_000083.2:c.593T>A	NP_000074.2:p.Leu198His
NR_046453.1:n.680T>A
XM_011515781.1:c.593T>A	XP_011514083.1:p.Leu198His
XM_017011739.1:c.300T>A	XP_016867228.1:p.Thr100=
XM_017011740.1:c.300T>A	XP_016867229.1:p.Thr100=
NM_000083.3:c.593T>A MANE Select	NP_000074.3:p.Leu198His
NR_046453.2:n.695T>A