Canonical Allele Identifier: CA369641692

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1508818
• ClinVar RCV Id: RCV002040519
• dbSNP Id: rs80356702
• gnomAD v4: 7-143330868-G-C
• MyVariant Identifiers: chr7:g.143027961G>C (hg19) ; chr7:g.143330868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330868G>C , CM000669.2:g.143330868G>C	GRCh38
NC_000007.13:g.143027961G>C , CM000669.1:g.143027961G>C	GRCh37
NC_000007.12:g.142738083G>C	NCBI36
NG_009815.1:g.19743G>C
NG_009815.2:g.19743G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.950G>C	ENSP00000498052.2:p.Arg317Pro
ENST00000343257.7:c.950G>C MANE Select	ENSP00000339867.2:p.Arg317Pro
ENST00000432192.6:c.774G>C
ENST00000455478.6:c.538G>C	ENSP00000400027.2:n.538G>C
ENST00000650516.1:c.950G>C	ENSP00000498052.1:p.Arg317Pro
ENST00000343257.6:c.950G>C	ENSP00000339867.2:p.Arg317Pro
ENST00000432192.5:c.464G>C
ENST00000455478.5:c.542G>C
ENST00000495612.1:n.251G>C
NM_000083.2:c.950G>C	NP_000074.2:p.Arg317Pro
NR_046453.1:n.1040G>C
XM_011515781.1:c.950G>C	XP_011514083.1:p.Arg317Pro
XM_017011739.1:c.500G>C	XP_016867228.1:p.Arg167Pro
XM_017011740.1:c.500G>C	XP_016867229.1:p.Arg167Pro
NM_000083.3:c.950G>C MANE Select	NP_000074.3:p.Arg317Pro
NR_046453.2:n.1055G>C