Canonical Allele Identifier: CA369641939

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331313T>G , CM000669.2:g.143331313T>G	GRCh38
NC_000007.13:g.143028406T>G , CM000669.1:g.143028406T>G	GRCh37
NC_000007.12:g.142738528T>G	NCBI36
NG_009815.1:g.20188T>G
NG_009815.2:g.20188T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1061T>G MANE Select	NP_000074.3:p.Ile354Ser
ENST00000343257.7:c.1061T>G MANE Select	ENSP00000339867.2:p.Ile354Ser
NM_000083.2:c.1061T>G	NP_000074.2:p.Ile354Ser
NR_046453.1:n.1151T>G
NR_046453.2:n.1166T>G
ENST00000343257.6:c.1061T>G	ENSP00000339867.2:p.Ile354Ser
ENST00000432192.6:c.885T>G
ENST00000650516.2:c.1061T>G	ENSP00000498052.2:p.Ile354Ser
XM_011515781.1:c.1061T>G	XP_011514083.1:p.Ile354Ser
XM_017011739.1:c.611T>G	XP_016867228.1:p.Ile204Ser
XM_017011740.1:c.611T>G	XP_016867229.1:p.Ile204Ser