Canonical Allele Identifier: CA369642146
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143331583T>C
GRCh37 chr7:g.143028676T>C
Revel Score:
ENST00000343257 (MANE Select) 0.891
gnomAD v4:
chr7-143331583-T-C
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000489990
ClinVar Variation:
427153
dbSNP:
1085307989
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331583T>C , CM000669.2:g.143331583T>C GRCh38
NC_000007.13:g.143028676T>C , CM000669.1:g.143028676T>C GRCh37
NC_000007.12:g.142738798T>C NCBI36
NG_009815.1:g.20458T>C
NG_009815.2:g.20458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1097T>C ENSP00000498052.2:p.Val366Ala
ENST00000343257.7:c.1097T>C MANE Select ENSP00000339867.2:p.Val366Ala
ENST00000432192.6:c.921T>C
ENST00000343257.6:c.1097T>C ENSP00000339867.2:p.Val366Ala
NM_000083.2:c.1097T>C NP_000074.2:p.Val366Ala
NR_046453.1:n.1187T>C
XM_011515781.1:c.1097T>C XP_011514083.1:p.Val366Ala
XM_011515782.1:c.-73T>C XP_011514084.1:n.-73T>C
XM_011515782.2:c.-73T>C XP_011514084.1:n.-73T>C
XM_017011739.1:c.647T>C XP_016867228.1:p.Val216Ala
XM_017011740.1:c.647T>C XP_016867229.1:p.Val216Ala
NM_000083.3:c.1097T>C MANE Select NP_000074.3:p.Val366Ala
NR_046453.2:n.1202T>C
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