Canonical Allele Identifier: CA1153814236

Gene: CLCN6 NPPA

Linked Data

• dbSNP Id: rs1645079861
• gnomAD v4: 1-11847697-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847697A>C , CM000663.2:g.11847697A>C	GRCh38
NC_000001.10:g.11907754A>C , CM000663.1:g.11907754A>C	GRCh37
NC_000001.9:g.11830341A>C	NCBI36
NG_012926.1:g.5087T>G , LRG_751:g.5087T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2082A>C (CLCN6)	ENSP00000496938.1:n.*2082A>C
ENST00000376476.1:c.-27-258T>G (NPPA)	ENSP00000365659.1:n.-27-258T>G
ENST00000376480.7:c.-13T>G (NPPA) MANE Select	ENSP00000365663.3:n.-13T>G
ENST00000610706.1:c.-13T>G (NPPA)	ENSP00000483195.1:n.-13T>G
NM_006172.3:c.-13T>G , LRG_751t1:c.-13T>G (NPPA)	NP_006163.1:n.-13T>G
NM_006172.4:c.-13T>G (NPPA) MANE Select	NP_006163.1:n.-13T>G