Canonical Allele Identifier: CA369654065

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803422135
• COSMIC: COSM6176866
• MyVariant Identifiers: chr7:g.143048972G>C (hg19) ; chr7:g.143351879G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351879G>C , CM000669.2:g.143351879G>C	GRCh38
NC_000007.13:g.143048972G>C , CM000669.1:g.143048972G>C	GRCh37
NC_000007.12:g.142759094G>C	NCBI36
NG_009815.1:g.40754G>C
NG_009815.2:g.40754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2881G>C	ENSP00000498052.2:p.Gly961Arg
ENST00000343257.7:c.2881G>C MANE Select	ENSP00000339867.2:p.Gly961Arg
ENST00000343257.6:c.2881G>C	ENSP00000339867.2:p.Gly961Arg
NM_000083.2:c.2881G>C	NP_000074.2:p.Gly961Arg
NR_046453.1:n.2821G>C
XM_011515781.1:c.2905G>C	XP_011514083.1:p.Gly969Arg
XM_011515782.1:c.1627G>C	XP_011514084.1:p.Gly543Arg
XM_011515782.2:c.1627G>C	XP_011514084.1:p.Gly543Arg
XM_017011739.1:c.2455G>C	XP_016867228.1:p.Gly819Arg
XM_017011740.1:c.2431G>C	XP_016867229.1:p.Gly811Arg
NM_000083.3:c.2881G>C MANE Select	NP_000074.3:p.Gly961Arg
NR_046453.2:n.2836G>C