Canonical Allele Identifier: CA834512297
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1254682764

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331144_143331147dup , CM000669.2:g.143331144_143331147dup GRCh38
NC_000007.13:g.143028237_143028240dup , CM000669.1:g.143028237_143028240dup GRCh37
NC_000007.12:g.142738359_142738362dup NCBI36
NG_009815.1:g.20019_20022dup
NG_009815.2:g.20019_20022dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.980-88_980-85dup ENSP00000498052.2:n.980-88_980-85dup
ENST00000343257.7:c.980-88_980-85dup MANE Select ENSP00000339867.2:n.980-88_980-85dup
ENST00000432192.6:c.804-88_804-85dup
ENST00000343257.6:c.980-88_980-85dup ENSP00000339867.2:n.980-88_980-85dup
NM_000083.2:c.980-88_980-85dup NP_000074.2:n.980-88_980-85dup
NR_046453.1:n.1070-88_1070-85dup
XM_011515781.1:c.980-88_980-85dup XP_011514083.1:n.980-88_980-85dup
XM_017011739.1:c.530-88_530-85dup XP_016867228.1:n.530-88_530-85dup
XM_017011740.1:c.530-88_530-85dup XP_016867229.1:n.530-88_530-85dup
NM_000083.3:c.980-88_980-85dup MANE Select NP_000074.3:n.980-88_980-85dup
NR_046453.2:n.1085-88_1085-85dup