Canonical Allele Identifier: CA1748889767

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332752T= , CM000669.2:g.143332752T=	GRCh38
NC_000007.13:g.143029845T= , CM000669.1:g.143029845T=	GRCh37
NC_000007.12:g.142739967T=	NCBI36
NG_009815.1:g.21627T=
NG_009815.2:g.21627T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1280T=	ENSP00000498052.2:p.Leu427=
ENST00000343257.7:c.1280T= MANE Select	ENSP00000339867.2:p.Leu427=
ENST00000432192.6:c.1104T=
ENST00000343257.6:c.1280T=	ENSP00000339867.2:p.Leu427=
NM_000083.2:c.1280T=	NP_000074.2:p.Leu427=
NR_046453.1:n.1341+249T=
XM_011515781.1:c.1304T=	XP_011514083.1:p.Leu435=
XM_011515782.1:c.26T=	XP_011514084.1:p.Leu9=
XM_011515782.2:c.26T=	XP_011514084.1:p.Leu9=
XM_017011739.1:c.854T=	XP_016867228.1:p.Leu285=
XM_017011740.1:c.830T=	XP_016867229.1:p.Leu277=
NM_000083.3:c.1280T= MANE Select	NP_000074.3:p.Leu427=
NR_046453.2:n.1356+249T=