Canonical Allele Identifier: CA458284698

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346263C>G , CM000669.2:g.143346263C>G	GRCh38
NC_000007.13:g.143043356C>G , CM000669.1:g.143043356C>G	GRCh37
NC_000007.12:g.142753478C>G	NCBI36
NG_009815.1:g.35138C>G
NG_009815.2:g.35138C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2284+12C>G MANE Select	NP_000074.3:n.2284+12C>G
ENST00000343257.7:c.2284+12C>G MANE Select	ENSP00000339867.2:n.2284+12C>G
NM_000083.2:c.2284+12C>G	NP_000074.2:n.2284+12C>G
NR_046453.1:n.2224+12C>G
NR_046453.2:n.2239+12C>G
ENST00000343257.6:c.2284+12C>G	ENSP00000339867.2:n.2284+12C>G
ENST00000432192.6:c.2108+12C>G
ENST00000650516.2:c.2284+12C>G	ENSP00000498052.2:n.2284+12C>G
XM_011515781.1:c.2308+12C>G	XP_011514083.1:n.2308+12C>G
XM_011515782.1:c.1030+12C>G	XP_011514084.1:n.1030+12C>G
XM_011515782.2:c.1030+12C>G	XP_011514084.1:n.1030+12C>G
XM_017011739.1:c.1858+12C>G	XP_016867228.1:n.1858+12C>G
XM_017011740.1:c.1834+12C>G	XP_016867229.1:n.1834+12C>G