Canonical Allele Identifier: CA369645579
Gene: CLCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.143036620G>C (hg19) chr7:g.143339527G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339527G>C , CM000669.2:g.143339527G>C GRCh38
NC_000007.13:g.143036620G>C , CM000669.1:g.143036620G>C GRCh37
NC_000007.12:g.142746742G>C NCBI36
NG_009815.1:g.28402G>C
NG_009815.2:g.28402G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1488G>C ENSP00000498052.2:p.Arg496Ser
ENST00000343257.7:c.1488G>C MANE Select ENSP00000339867.2:p.Arg496Ser
ENST00000432192.6:c.1312G>C
ENST00000343257.6:c.1488G>C ENSP00000339867.2:p.Arg496Ser
NM_000083.2:c.1488G>C NP_000074.2:p.Arg496Ser
NR_046453.1:n.1428G>C
XM_011515781.1:c.1512G>C XP_011514083.1:p.Arg504Ser
XM_011515782.1:c.234G>C XP_011514084.1:p.Arg78Ser
XM_011515782.2:c.234G>C XP_011514084.1:p.Arg78Ser
XM_017011739.1:c.1062G>C XP_016867228.1:p.Arg354Ser
XM_017011740.1:c.1038G>C XP_016867229.1:p.Arg346Ser
NM_000083.3:c.1488G>C MANE Select NP_000074.3:p.Arg496Ser
NR_046453.2:n.1443G>C
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