Canonical Allele Identifier: CA458542030

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018531A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321438A>C , CM000669.2:g.143321438A>C	GRCh38
NC_000007.13:g.143018531A>C , CM000669.1:g.143018531A>C	GRCh37
NC_000007.12:g.142728653A>C	NCBI36
NG_009815.1:g.10313A>C
NG_009815.2:g.10313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.507A>C	ENSP00000498052.2:p.Leu169=
ENST00000343257.7:c.507A>C MANE Select	ENSP00000339867.2:p.Leu169=
ENST00000432192.6:c.275A>C
ENST00000650516.1:c.507A>C	ENSP00000498052.1:p.Leu169=
ENST00000343257.6:c.507A>C	ENSP00000339867.2:p.Leu169=
NM_000083.2:c.507A>C	NP_000074.2:p.Leu169=
NR_046453.1:n.594A>C
XM_011515781.1:c.507A>C	XP_011514083.1:p.Leu169=
XM_017011739.1:c.214A>C	XP_016867228.1:p.Ser72Arg
XM_017011740.1:c.214A>C	XP_016867229.1:p.Ser72Arg
NM_000083.3:c.507A>C MANE Select	NP_000074.3:p.Leu169=
NR_046453.2:n.609A>C