Canonical Allele Identifier: CA2643312163

Gene: CLCN6 NPPA

Linked Data

• gnomAD v4: 1-11847705-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847705A>G , CM000663.2:g.11847705A>G	GRCh38
NC_000001.10:g.11907762A>G , CM000663.1:g.11907762A>G	GRCh37
NC_000001.9:g.11830349A>G	NCBI36
NG_012926.1:g.5079T>C , LRG_751:g.5079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2090A>G (CLCN6)	ENSP00000496938.1:n.*2090A>G
ENST00000376476.1:c.-27-266T>C (NPPA)	ENSP00000365659.1:n.-27-266T>C
ENST00000376480.7:c.-21T>C (NPPA) MANE Select	ENSP00000365663.3:n.-21T>C
ENST00000610706.1:c.-21T>C (NPPA)	ENSP00000483195.1:n.-21T>C
NM_006172.3:c.-21T>C , LRG_751t1:c.-21T>C (NPPA)	NP_006163.1:n.-21T>C
NM_006172.4:c.-21T>C (NPPA) MANE Select	NP_006163.1:n.-21T>C