Canonical Allele Identifier: CA4537527

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345607G>C , CM000669.2:g.143345607G>C	GRCh38
NC_000007.13:g.143042700G>C , CM000669.1:g.143042700G>C	GRCh37
NC_000007.12:g.142752822G>C	NCBI36
NG_009815.1:g.34482G>C
NG_009815.2:g.34482G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2017G>C MANE Select	NP_000074.3:p.Ala673Pro
ENST00000343257.7:c.2017G>C MANE Select	ENSP00000339867.2:p.Ala673Pro
NM_000083.2:c.2017G>C	NP_000074.2:p.Ala673Pro
NR_046453.1:n.1957G>C
NR_046453.2:n.1972G>C
ENST00000343257.6:c.2017G>C	ENSP00000339867.2:p.Ala673Pro
ENST00000432192.6:c.1841G>C
ENST00000650516.2:c.2017G>C	ENSP00000498052.2:p.Ala673Pro
XM_011515781.1:c.2041G>C	XP_011514083.1:p.Ala681Pro
XM_011515782.1:c.763G>C	XP_011514084.1:p.Ala255Pro
XM_011515782.2:c.763G>C	XP_011514084.1:p.Ala255Pro
XM_017011739.1:c.1591G>C	XP_016867228.1:p.Ala531Pro
XM_017011740.1:c.1567G>C	XP_016867229.1:p.Ala523Pro