Canonical Allele Identifier: CA1748889749

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332724T= , CM000669.2:g.143332724T=	GRCh38
NC_000007.13:g.143029817T= , CM000669.1:g.143029817T=	GRCh37
NC_000007.12:g.142739939T=	NCBI36
NG_009815.1:g.21599T=
NG_009815.2:g.21599T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252T=	ENSP00000498052.2:p.Leu418=
ENST00000343257.7:c.1252T= MANE Select	ENSP00000339867.2:p.Leu418=
ENST00000432192.6:c.1076T=
ENST00000343257.6:c.1252T=	ENSP00000339867.2:p.Leu418=
NM_000083.2:c.1252T=	NP_000074.2:p.Leu418=
NR_046453.1:n.1341+221T=
XM_011515781.1:c.1276T=	XP_011514083.1:p.Leu426=
XM_011515782.1:c.-3T=	XP_011514084.1:n.-3T=
XM_011515782.2:c.-3T=	XP_011514084.1:n.-3T=
XM_017011739.1:c.826T=	XP_016867228.1:p.Leu276=
XM_017011740.1:c.802T=	XP_016867229.1:p.Leu268=
NM_000083.3:c.1252T= MANE Select	NP_000074.3:p.Leu418=
NR_046453.2:n.1356+221T=