Canonical Allele Identifier: CA1748892766

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339281T= , CM000669.2:g.143339281T=	GRCh38
NC_000007.13:g.143036374T= , CM000669.1:g.143036374T=	GRCh37
NC_000007.12:g.142746496T=	NCBI36
NG_009815.1:g.28156T=
NG_009815.2:g.28156T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1430T=	ENSP00000498052.2:p.Met477=
ENST00000343257.7:c.1430T= MANE Select	ENSP00000339867.2:p.Met477=
ENST00000432192.6:c.1254T=
ENST00000343257.6:c.1430T=	ENSP00000339867.2:p.Met477=
NM_000083.2:c.1430T=	NP_000074.2:p.Met477=
NR_046453.1:n.1370T=
XM_011515781.1:c.1454T=	XP_011514083.1:p.Met485=
XM_011515782.1:c.176T=	XP_011514084.1:p.Met59=
XM_011515782.2:c.176T=	XP_011514084.1:p.Met59=
XM_017011739.1:c.1004T=	XP_016867228.1:p.Met335=
XM_017011740.1:c.980T=	XP_016867229.1:p.Met327=
NM_000083.3:c.1430T= MANE Select	NP_000074.3:p.Met477=
NR_046453.2:n.1385T=