Canonical Allele Identifier: CA1748893909

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341939G= , CM000669.2:g.143341939G=	GRCh38
NC_000007.13:g.143039032G= , CM000669.1:g.143039032G=	GRCh37
NC_000007.12:g.142749154G=	NCBI36
NG_009815.1:g.30814G=
NG_009815.2:g.30814G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1593G=	ENSP00000498052.2:p.Ala531=
ENST00000343257.7:c.1593G= MANE Select	ENSP00000339867.2:p.Ala531=
ENST00000432192.6:c.1417G=
ENST00000343257.6:c.1593G=	ENSP00000339867.2:p.Ala531=
NM_000083.2:c.1593G=	NP_000074.2:p.Ala531=
NR_046453.1:n.1533G=
XM_011515781.1:c.1617G=	XP_011514083.1:p.Ala539=
XM_011515782.1:c.339G=	XP_011514084.1:p.Ala113=
XM_011515782.2:c.339G=	XP_011514084.1:p.Ala113=
XM_017011739.1:c.1167G=	XP_016867228.1:p.Ala389=
XM_017011740.1:c.1143G=	XP_016867229.1:p.Ala381=
NM_000083.3:c.1593G= MANE Select	NP_000074.3:p.Ala531=
NR_046453.2:n.1548G=