Canonical Allele Identifier: CA341535
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs80356693
gnomAD v4: 7-143339263-C-T
MyVariant Identifiers: chr7:g.143036356C>T (hg19) chr7:g.143339263C>T (hg38)
PubMed: PMID:20301529
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339263C>T , CM000669.2:g.143339263C>T GRCh38
NC_000007.13:g.143036356C>T , CM000669.1:g.143036356C>T GRCh37
NC_000007.12:g.142746478C>T NCBI36
NG_009815.1:g.28138C>T
NG_009815.2:g.28138C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1412C>T ENSP00000498052.2:p.Ser471Phe
ENST00000343257.7:c.1412C>T MANE Select ENSP00000339867.2:p.Ser471Phe
ENST00000432192.6:c.1236C>T
ENST00000343257.6:c.1412C>T ENSP00000339867.2:p.Ser471Phe
NM_000083.2:c.1412C>T NP_000074.2:p.Ser471Phe
NR_046453.1:n.1352C>T
XM_011515781.1:c.1436C>T XP_011514083.1:p.Ser479Phe
XM_011515782.1:c.158C>T XP_011514084.1:p.Ser53Phe
XM_011515782.2:c.158C>T XP_011514084.1:p.Ser53Phe
XM_017011739.1:c.986C>T XP_016867228.1:p.Ser329Phe
XM_017011740.1:c.962C>T XP_016867229.1:p.Ser321Phe
NM_000083.3:c.1412C>T MANE Select NP_000074.3:p.Ser471Phe
NR_046453.2:n.1367C>T
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