Canonical Allele Identifier: CA369641663

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330855G>C , CM000669.2:g.143330855G>C	GRCh38
NC_000007.13:g.143027948G>C , CM000669.1:g.143027948G>C	GRCh37
NC_000007.12:g.142738070G>C	NCBI36
NG_009815.1:g.19730G>C
NG_009815.2:g.19730G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.937G>C MANE Select	NP_000074.3:p.Ala313Pro
ENST00000343257.7:c.937G>C MANE Select	ENSP00000339867.2:p.Ala313Pro
NM_000083.2:c.937G>C	NP_000074.2:p.Ala313Pro
NR_046453.1:n.1027G>C
NR_046453.2:n.1042G>C
ENST00000343257.6:c.937G>C	ENSP00000339867.2:p.Ala313Pro
ENST00000432192.5:c.451G>C
ENST00000432192.6:c.761G>C
ENST00000455478.5:c.529G>C
ENST00000455478.6:c.525G>C	ENSP00000400027.2:n.525G>C
ENST00000495612.1:n.238G>C
ENST00000650516.1:c.937G>C	ENSP00000498052.1:p.Ala313Pro
ENST00000650516.2:c.937G>C	ENSP00000498052.2:p.Ala313Pro
XM_011515781.1:c.937G>C	XP_011514083.1:p.Ala313Pro
XM_017011739.1:c.487G>C	XP_016867228.1:p.Ala163Pro
XM_017011740.1:c.487G>C	XP_016867229.1:p.Ala163Pro