Canonical Allele Identifier: CA4536954

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2949964
• ClinVar RCV Id: RCV003807322
• dbSNP Id: rs368048336
• ExAC: 7:143018454 G / C
• gnomAD v2: 7-143018454-G-C
• gnomAD v4: 7-143321361-G-C
• MyVariant Identifiers: chr7:g.143018454G>C (hg19) ; chr7:g.143321361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321361G>C , CM000669.2:g.143321361G>C	GRCh38
NC_000007.13:g.143018454G>C , CM000669.1:g.143018454G>C	GRCh37
NC_000007.12:g.142728576G>C	NCBI36
NG_009815.1:g.10236G>C
NG_009815.2:g.10236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-4G>C	ENSP00000498052.2:n.434-4G>C
ENST00000343257.7:c.434-4G>C MANE Select	ENSP00000339867.2:n.434-4G>C
ENST00000432192.6:c.202-4G>C
ENST00000650516.1:c.434-4G>C	ENSP00000498052.1:n.434-4G>C
ENST00000343257.6:c.434-4G>C	ENSP00000339867.2:n.434-4G>C
NM_000083.2:c.434-4G>C	NP_000074.2:n.434-4G>C
NR_046453.1:n.521-4G>C
XM_011515781.1:c.434-4G>C	XP_011514083.1:n.434-4G>C
XM_017011739.1:c.141-4G>C	XP_016867228.1:n.141-4G>C
XM_017011740.1:c.141-4G>C	XP_016867229.1:n.141-4G>C
NM_000083.3:c.434-4G>C MANE Select	NP_000074.3:n.434-4G>C
NR_046453.2:n.536-4G>C