Canonical Allele Identifier: CA4537796

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351831G>A , CM000669.2:g.143351831G>A	GRCh38
NC_000007.13:g.143048924G>A , CM000669.1:g.143048924G>A	GRCh37
NC_000007.12:g.142759046G>A	NCBI36
NG_009815.1:g.40706G>A
NG_009815.2:g.40706G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2833G>A MANE Select	NP_000074.3:p.Gly945Ser
ENST00000343257.7:c.2833G>A MANE Select	ENSP00000339867.2:p.Gly945Ser
NM_000083.2:c.2833G>A	NP_000074.2:p.Gly945Ser
NR_046453.1:n.2773G>A
NR_046453.2:n.2788G>A
ENST00000343257.6:c.2833G>A	ENSP00000339867.2:p.Gly945Ser
ENST00000650516.2:c.2833G>A	ENSP00000498052.2:p.Gly945Ser
XM_011515781.1:c.2857G>A	XP_011514083.1:p.Gly953Ser
XM_011515782.1:c.1579G>A	XP_011514084.1:p.Gly527Ser
XM_011515782.2:c.1579G>A	XP_011514084.1:p.Gly527Ser
XM_017011739.1:c.2407G>A	XP_016867228.1:p.Gly803Ser
XM_017011740.1:c.2383G>A	XP_016867229.1:p.Gly795Ser