Canonical Allele Identifier: CA2579050552

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321582C>A , CM000669.2:g.143321582C>A	GRCh38
NC_000007.13:g.143018675C>A , CM000669.1:g.143018675C>A	GRCh37
NC_000007.12:g.142728797C>A	NCBI36
NG_009815.1:g.10457C>A
NG_009815.2:g.10457C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+89C>A	ENSP00000498052.2:n.562+89C>A
ENST00000343257.7:c.562+89C>A MANE Select	ENSP00000339867.2:n.562+89C>A
ENST00000432192.6:c.330+89C>A
ENST00000455478.6:c.16+89C>A	ENSP00000400027.2:n.16+89C>A
ENST00000650516.1:c.562+89C>A	ENSP00000498052.1:n.562+89C>A
ENST00000343257.6:c.562+89C>A	ENSP00000339867.2:n.562+89C>A
ENST00000432192.5:c.20+89C>A
ENST00000455478.5:c.20+89C>A
ENST00000495612.1:n.20+89C>A
NM_000083.2:c.562+89C>A	NP_000074.2:n.562+89C>A
NR_046453.1:n.649+89C>A
XM_011515781.1:c.562+89C>A	XP_011514083.1:n.562+89C>A
XM_017011739.1:c.269+89C>A	XP_016867228.1:n.269+89C>A
XM_017011740.1:c.269+89C>A	XP_016867229.1:n.269+89C>A
NM_000083.3:c.562+89C>A MANE Select	NP_000074.3:n.562+89C>A
NR_046453.2:n.664+89C>A