Canonical Allele Identifier: CA4537282
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143332483G>T
GRCh37 chr7:g.143029576G>T
Revel Score:
ENST00000343257 (MANE Select) 0.978
gnomAD v4:
chr7-143332483-G-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
421623
ClinVar RCV:
RCV000494058
RCV000536398
RCV003317242
ClinVar Variation:
429659
dbSNP:
756199349
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332483G>T , CM000669.2:g.143332483G>T GRCh38
NC_000007.13:g.143029576G>T , CM000669.1:g.143029576G>T GRCh37
NC_000007.12:g.142739698G>T NCBI36
NG_009815.1:g.21358G>T
NG_009815.2:g.21358G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1231G>T ENSP00000498052.2:p.Gly411Cys
ENST00000343257.7:c.1231G>T MANE Select ENSP00000339867.2:p.Gly411Cys
ENST00000432192.6:c.1055G>T
ENST00000343257.6:c.1231G>T ENSP00000339867.2:p.Gly411Cys
NM_000083.2:c.1231G>T NP_000074.2:p.Gly411Cys
NR_046453.1:n.1321G>T
XM_011515781.1:c.1231G>T XP_011514083.1:p.Gly411Cys
XM_011515782.1:c.-3-241G>T XP_011514084.1:n.-3-241G>T
XM_011515782.2:c.-3-241G>T XP_011514084.1:n.-3-241G>T
XM_017011739.1:c.781G>T XP_016867228.1:p.Gly261Cys
XM_017011740.1:c.781G>T XP_016867229.1:p.Gly261Cys
NM_000083.3:c.1231G>T MANE Select NP_000074.3:p.Gly411Cys
NR_046453.2:n.1336G>T
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