Canonical Allele Identifier: CA416107284

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11845729-C-T
• MyVariant Identifiers: chr1:g.11905786C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845729C>T , CM000663.2:g.11845729C>T	GRCh38
NC_000001.10:g.11905786C>T , CM000663.1:g.11905786C>T	GRCh37
NC_000001.9:g.11828373C>T	NCBI36
NG_012926.1:g.7055G>A , LRG_751:g.7055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1924C>T (CLCN6)	ENSP00000496938.1:n.*1924C>T
ENST00000446542.5:n.744C>T (NPPA-AS1)
ENST00000376480.7:c.*280G>A (NPPA) MANE Select	ENSP00000365663.3:n.*280G>A
ENST00000610706.1:c.*274G>A (NPPA)	ENSP00000483195.1:n.*274G>A
NM_006172.3:c.*280G>A , LRG_751t1:c.*280G>A (NPPA)	NP_006163.1:n.*280G>A
NR_037806.1:n.1442C>T (NPPA-AS1)
NM_006172.4:c.*280G>A (NPPA) MANE Select	NP_006163.1:n.*280G>A