Canonical Allele Identifier: CA1748892883

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339543A= , CM000669.2:g.143339543A=	GRCh38
NC_000007.13:g.143036636A= , CM000669.1:g.143036636A=	GRCh37
NC_000007.12:g.142746758A=	NCBI36
NG_009815.1:g.28418A=
NG_009815.2:g.28418A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1504A=	ENSP00000498052.2:p.Met502=
ENST00000343257.7:c.1504A= MANE Select	ENSP00000339867.2:p.Met502=
ENST00000432192.6:c.1328A=
ENST00000343257.6:c.1504A=	ENSP00000339867.2:p.Met502=
NM_000083.2:c.1504A=	NP_000074.2:p.Met502=
NR_046453.1:n.1444A=
XM_011515781.1:c.1528A=	XP_011514083.1:p.Met510=
XM_011515782.1:c.250A=	XP_011514084.1:p.Met84=
XM_011515782.2:c.250A=	XP_011514084.1:p.Met84=
XM_017011739.1:c.1078A=	XP_016867228.1:p.Met360=
XM_017011740.1:c.1054A=	XP_016867229.1:p.Met352=
NM_000083.3:c.1504A= MANE Select	NP_000074.3:p.Met502=
NR_046453.2:n.1459A=