Canonical Allele Identifier: CA168224771
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143342451C>T
GRCh37 chr7:g.143039544C>T
gnomAD v2:
7:143039544 C / T
gnomAD v3:
7:143342451 C / T
gnomAD v4:
chr7-143342451-C-T
Joint Max Group AF 0.00000875 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV000518160
RCV000638229
ClinVar Variation:
447058
dbSNP:
201894078
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143342451C>T , CM000669.2:g.143342451C>T GRCh38
NC_000007.13:g.143039544C>T , CM000669.1:g.143039544C>T GRCh37
NC_000007.12:g.142749666C>T NCBI36
NG_009815.1:g.31326C>T
NG_009815.2:g.31326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1876C>T ENSP00000498052.2:p.Arg626Ter
ENST00000343257.7:c.1876C>T MANE Select ENSP00000339867.2:p.Arg626Ter
ENST00000432192.6:c.1700C>T
ENST00000343257.6:c.1876C>T ENSP00000339867.2:p.Arg626Ter
NM_000083.2:c.1876C>T NP_000074.2:p.Arg626Ter
NR_046453.1:n.1816C>T
XM_011515781.1:c.1900C>T XP_011514083.1:p.Arg634Ter
XM_011515782.1:c.622C>T XP_011514084.1:p.Arg208Ter
XM_011515782.2:c.622C>T XP_011514084.1:p.Arg208Ter
XM_017011739.1:c.1450C>T XP_016867228.1:p.Arg484Ter
XM_017011740.1:c.1426C>T XP_016867229.1:p.Arg476Ter
NM_000083.3:c.1876C>T MANE Select NP_000074.3:p.Arg626Ter
NR_046453.2:n.1831C>T
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