Canonical Allele Identifier: CA369641492

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027867G>C (hg19) ; chr7:g.143330774G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330774G>C , CM000669.2:g.143330774G>C	GRCh38
NC_000007.13:g.143027867G>C , CM000669.1:g.143027867G>C	GRCh37
NC_000007.12:g.142737989G>C	NCBI36
NG_009815.1:g.19649G>C
NG_009815.2:g.19649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.856G>C	ENSP00000498052.2:p.Val286Leu
ENST00000343257.7:c.856G>C MANE Select	ENSP00000339867.2:p.Val286Leu
ENST00000432192.6:c.680G>C
ENST00000455478.6:c.444G>C	ENSP00000400027.2:n.444G>C
ENST00000650516.1:c.856G>C	ENSP00000498052.1:p.Val286Leu
ENST00000343257.6:c.856G>C	ENSP00000339867.2:p.Val286Leu
ENST00000432192.5:c.370G>C
ENST00000455478.5:c.448G>C
ENST00000495612.1:n.157G>C
NM_000083.2:c.856G>C	NP_000074.2:p.Val286Leu
NR_046453.1:n.946G>C
XM_011515781.1:c.856G>C	XP_011514083.1:p.Val286Leu
XM_017011739.1:c.406G>C	XP_016867228.1:p.Val136Leu
XM_017011740.1:c.406G>C	XP_016867229.1:p.Val136Leu
NM_000083.3:c.856G>C MANE Select	NP_000074.3:p.Val286Leu
NR_046453.2:n.961G>C