Canonical Allele Identifier: CA4537214
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143331315G>A
GRCh37 chr7:g.143028408G>A
Revel Score:
ENST00000343257 (MANE Select) 0.990
gnomAD v2:
7:143028408 G / A
gnomAD v3:
7:143331315 G / A
gnomAD v4:
chr7-143331315-G-A
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000742 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331315G>A , CM000669.2:g.143331315G>A GRCh38
NC_000007.13:g.143028408G>A , CM000669.1:g.143028408G>A GRCh37
NC_000007.12:g.142738530G>A NCBI36
NG_009815.1:g.20190G>A
NG_009815.2:g.20190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1063G>A ENSP00000498052.2:p.Gly355Arg
ENST00000343257.7:c.1063G>A MANE Select ENSP00000339867.2:p.Gly355Arg
ENST00000432192.6:c.887G>A
ENST00000343257.6:c.1063G>A ENSP00000339867.2:p.Gly355Arg
NM_000083.2:c.1063G>A NP_000074.2:p.Gly355Arg
NR_046453.1:n.1153G>A
XM_011515781.1:c.1063G>A XP_011514083.1:p.Gly355Arg
XM_017011739.1:c.613G>A XP_016867228.1:p.Gly205Arg
XM_017011740.1:c.613G>A XP_016867229.1:p.Gly205Arg
NM_000083.3:c.1063G>A MANE Select NP_000074.3:p.Gly355Arg
NR_046453.2:n.1168G>A
Search 100 bp 5'
Search 100 bp 3'