Canonical Allele Identifier: CA4537603
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143346225A>C
GRCh37 chr7:g.143043318A>C
Revel Score:
ENST00000343257 (MANE Select) 0.248
gnomAD v2:
7:143043318 A / C
gnomAD v3:
7:143346225 A / C
gnomAD v4:
chr7-143346225-A-C
Joint Max Group AF 0.0006262 (AFR)
Genomes Max Group AF 0.00027994 (AFR)
Exomes Max Group AF 0.00092822 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143346225A>C , CM000669.2:g.143346225A>C GRCh38
NC_000007.13:g.143043318A>C , CM000669.1:g.143043318A>C GRCh37
NC_000007.12:g.142753440A>C NCBI36
NG_009815.1:g.35100A>C
NG_009815.2:g.35100A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2258A>C ENSP00000498052.2:p.Gln753Pro
ENST00000343257.7:c.2258A>C MANE Select ENSP00000339867.2:p.Gln753Pro
ENST00000432192.6:c.2082A>C
ENST00000343257.6:c.2258A>C ENSP00000339867.2:p.Gln753Pro
NM_000083.2:c.2258A>C NP_000074.2:p.Gln753Pro
NR_046453.1:n.2198A>C
XM_011515781.1:c.2282A>C XP_011514083.1:p.Gln761Pro
XM_011515782.1:c.1004A>C XP_011514084.1:p.Gln335Pro
XM_011515782.2:c.1004A>C XP_011514084.1:p.Gln335Pro
XM_017011739.1:c.1832A>C XP_016867228.1:p.Gln611Pro
XM_017011740.1:c.1808A>C XP_016867229.1:p.Gln603Pro
NM_000083.3:c.2258A>C MANE Select NP_000074.3:p.Gln753Pro
NR_046453.2:n.2213A>C
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