Canonical Allele Identifier: CA369684214

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 585691
• ClinVar RCV Id: RCV000711235
• dbSNP Id: rs1554434857
• MyVariant Identifiers: chr7:g.143018808G>C (hg19) ; chr7:g.143321715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321715G>C , CM000669.2:g.143321715G>C	GRCh38
NC_000007.13:g.143018808G>C , CM000669.1:g.143018808G>C	GRCh37
NC_000007.12:g.142728930G>C	NCBI36
NG_009815.1:g.10590G>C
NG_009815.2:g.10590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.563G>C	ENSP00000498052.2:p.Gly188Ala
ENST00000343257.7:c.563G>C MANE Select	ENSP00000339867.2:p.Gly188Ala
ENST00000432192.6:c.331G>C
ENST00000455478.6:c.17G>C	ENSP00000400027.2:p.Gly6Ala
ENST00000650516.1:c.563G>C	ENSP00000498052.1:p.Gly188Ala
ENST00000343257.6:c.563G>C	ENSP00000339867.2:p.Gly188Ala
ENST00000432192.5:c.21G>C
ENST00000455478.5:c.21G>C
ENST00000495612.1:n.21G>C
NM_000083.2:c.563G>C	NP_000074.2:p.Gly188Ala
NR_046453.1:n.650G>C
XM_011515781.1:c.563G>C	XP_011514083.1:p.Gly188Ala
XM_017011739.1:c.270G>C	XP_016867228.1:p.Trp90Cys
XM_017011740.1:c.270G>C	XP_016867229.1:p.Trp90Cys
NM_000083.3:c.563G>C MANE Select	NP_000074.3:p.Gly188Ala
NR_046453.2:n.665G>C