Canonical Allele Identifier: CA369641632

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 531746
• ClinVar RCV Id: RCV000638240
• dbSNP Id: rs1330549395
• gnomAD v2: 7-143027933-G-C
• gnomAD v4: 7-143330840-G-C
• MyVariant Identifiers: chr7:g.143027933G>C (hg19) ; chr7:g.143330840G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330840G>C , CM000669.2:g.143330840G>C	GRCh38
NC_000007.13:g.143027933G>C , CM000669.1:g.143027933G>C	GRCh37
NC_000007.12:g.142738055G>C	NCBI36
NG_009815.1:g.19715G>C
NG_009815.2:g.19715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.922G>C	ENSP00000498052.2:p.Ala308Pro
ENST00000343257.7:c.922G>C MANE Select	ENSP00000339867.2:p.Ala308Pro
ENST00000432192.6:c.746G>C
ENST00000455478.6:c.510G>C	ENSP00000400027.2:n.510G>C
ENST00000650516.1:c.922G>C	ENSP00000498052.1:p.Ala308Pro
ENST00000343257.6:c.922G>C	ENSP00000339867.2:p.Ala308Pro
ENST00000432192.5:c.436G>C
ENST00000455478.5:c.514G>C
ENST00000495612.1:n.223G>C
NM_000083.2:c.922G>C	NP_000074.2:p.Ala308Pro
NR_046453.1:n.1012G>C
XM_011515781.1:c.922G>C	XP_011514083.1:p.Ala308Pro
XM_017011739.1:c.472G>C	XP_016867228.1:p.Ala158Pro
XM_017011740.1:c.472G>C	XP_016867229.1:p.Ala158Pro
NM_000083.3:c.922G>C MANE Select	NP_000074.3:p.Ala308Pro
NR_046453.2:n.1027G>C