Canonical Allele Identifier: CA4537118

Gene: CLCN1

Linked Data

• dbSNP Id: rs372820685
• ExAC: 7:143021479 G / C
• gnomAD v2: 7-143021479-G-C
• gnomAD v3: 7-143324386-G-C
• gnomAD v4: 7-143324386-G-C
• MyVariant Identifiers: chr7:g.143021479G>C (hg19) ; chr7:g.143324386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324386G>C , CM000669.2:g.143324386G>C	GRCh38
NC_000007.13:g.143021479G>C , CM000669.1:g.143021479G>C	GRCh37
NC_000007.12:g.142731601G>C	NCBI36
NG_009815.1:g.13261G>C
NG_009815.2:g.13261G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+489G>C	ENSP00000498052.2:n.853+489G>C
ENST00000343257.7:c.775-28G>C MANE Select	ENSP00000339867.2:n.775-28G>C
ENST00000432192.6:c.599-28G>C
ENST00000455478.6:c.363-28G>C	ENSP00000400027.2:n.363-28G>C
ENST00000650516.1:c.853+489G>C	ENSP00000498052.1:n.853+489G>C
ENST00000343257.6:c.775-28G>C	ENSP00000339867.2:n.775-28G>C
ENST00000432192.5:c.289-28G>C
ENST00000455478.5:c.367-28G>C
ENST00000495612.1:n.154+2538G>C
NM_000083.2:c.775-28G>C	NP_000074.2:n.775-28G>C
NR_046453.1:n.862-25G>C
XM_011515781.1:c.853+489G>C	XP_011514083.1:n.853+489G>C
XM_017011739.1:c.403+2538G>C	XP_016867228.1:n.403+2538G>C
XM_017011740.1:c.403+2538G>C	XP_016867229.1:n.403+2538G>C
NM_000083.3:c.775-28G>C MANE Select	NP_000074.3:n.775-28G>C
NR_046453.2:n.877-25G>C