Canonical Allele Identifier: CA578445406

Gene: CLCN1

Linked Data

• dbSNP Id: rs1329466364
• gnomAD v2: 7-143027860-T-C
• gnomAD v3: 7-143330767-T-C
• gnomAD v4: 7-143330767-T-C
• MyVariant Identifiers: chr7:g.143027860T>C (hg19) ; chr7:g.143330767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330767T>C , CM000669.2:g.143330767T>C	GRCh38
NC_000007.13:g.143027860T>C , CM000669.1:g.143027860T>C	GRCh37
NC_000007.12:g.142737982T>C	NCBI36
NG_009815.1:g.19642T>C
NG_009815.2:g.19642T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.854-5T>C	ENSP00000498052.2:n.854-5T>C
ENST00000343257.7:c.854-5T>C MANE Select	ENSP00000339867.2:n.854-5T>C
ENST00000432192.6:c.678-5T>C
ENST00000455478.6:c.442-5T>C	ENSP00000400027.2:n.442-5T>C
ENST00000650516.1:c.854-5T>C	ENSP00000498052.1:n.854-5T>C
ENST00000343257.6:c.854-5T>C	ENSP00000339867.2:n.854-5T>C
ENST00000432192.5:c.368-5T>C
ENST00000455478.5:c.446-5T>C
ENST00000495612.1:n.155-5T>C
NM_000083.2:c.854-5T>C	NP_000074.2:n.854-5T>C
NR_046453.1:n.944-5T>C
XM_011515781.1:c.854-5T>C	XP_011514083.1:n.854-5T>C
XM_017011739.1:c.404-5T>C	XP_016867228.1:n.404-5T>C
XM_017011740.1:c.404-5T>C	XP_016867229.1:n.404-5T>C
NM_000083.3:c.854-5T>C MANE Select	NP_000074.3:n.854-5T>C
NR_046453.2:n.959-5T>C