Canonical Allele Identifier: CA168226427

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345533T>C , CM000669.2:g.143345533T>C	GRCh38
NC_000007.13:g.143042626T>C , CM000669.1:g.143042626T>C	GRCh37
NC_000007.12:g.142752748T>C	NCBI36
NG_009815.1:g.34408T>C
NG_009815.2:g.34408T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1943T>C MANE Select	NP_000074.3:p.Leu648Pro
ENST00000343257.7:c.1943T>C MANE Select	ENSP00000339867.2:p.Leu648Pro
NM_000083.2:c.1943T>C	NP_000074.2:p.Leu648Pro
NR_046453.1:n.1883T>C
NR_046453.2:n.1898T>C
ENST00000343257.6:c.1943T>C	ENSP00000339867.2:p.Leu648Pro
ENST00000432192.6:c.1767T>C
ENST00000650516.2:c.1943T>C	ENSP00000498052.2:p.Leu648Pro
XM_011515781.1:c.1967T>C	XP_011514083.1:p.Leu656Pro
XM_011515782.1:c.689T>C	XP_011514084.1:p.Leu230Pro
XM_011515782.2:c.689T>C	XP_011514084.1:p.Leu230Pro
XM_017011739.1:c.1517T>C	XP_016867228.1:p.Leu506Pro
XM_017011740.1:c.1493T>C	XP_016867229.1:p.Leu498Pro