Canonical Allele Identifier: CA2685380171
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143331502-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331502T>G , CM000669.2:g.143331502T>G GRCh38
NC_000007.13:g.143028595T>G , CM000669.1:g.143028595T>G GRCh37
NC_000007.12:g.142738717T>G NCBI36
NG_009815.1:g.20377T>G
NG_009815.2:g.20377T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1065-49T>G ENSP00000498052.2:n.1065-49T>G
ENST00000343257.7:c.1065-49T>G MANE Select ENSP00000339867.2:n.1065-49T>G
ENST00000432192.6:c.889-49T>G
ENST00000343257.6:c.1065-49T>G ENSP00000339867.2:n.1065-49T>G
NM_000083.2:c.1065-49T>G NP_000074.2:n.1065-49T>G
NR_046453.1:n.1155-49T>G
XM_011515781.1:c.1065-49T>G XP_011514083.1:n.1065-49T>G
XM_017011739.1:c.615-49T>G XP_016867228.1:n.615-49T>G
XM_017011740.1:c.615-49T>G XP_016867229.1:n.615-49T>G
NM_000083.3:c.1065-49T>G MANE Select NP_000074.3:n.1065-49T>G
NR_046453.2:n.1170-49T>G
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