Canonical Allele Identifier: CA369652488

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143047476G>C (hg19) ; chr7:g.143350383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350383G>C , CM000669.2:g.143350383G>C	GRCh38
NC_000007.13:g.143047476G>C , CM000669.1:g.143047476G>C	GRCh37
NC_000007.12:g.142757598G>C	NCBI36
NG_009815.1:g.39258G>C
NG_009815.2:g.39258G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2415G>C	ENSP00000498052.2:p.Trp805Cys
ENST00000343257.7:c.2415G>C MANE Select	ENSP00000339867.2:p.Trp805Cys
ENST00000432192.6:c.2239G>C
ENST00000343257.6:c.2415G>C	ENSP00000339867.2:p.Trp805Cys
NM_000083.2:c.2415G>C	NP_000074.2:p.Trp805Cys
NR_046453.1:n.2355G>C
XM_011515781.1:c.2439G>C	XP_011514083.1:p.Trp813Cys
XM_011515782.1:c.1161G>C	XP_011514084.1:p.Trp387Cys
XM_011515782.2:c.1161G>C	XP_011514084.1:p.Trp387Cys
XM_017011739.1:c.1989G>C	XP_016867228.1:p.Trp663Cys
XM_017011740.1:c.1965G>C	XP_016867229.1:p.Trp655Cys
NM_000083.3:c.2415G>C MANE Select	NP_000074.3:p.Trp805Cys
NR_046453.2:n.2370G>C