Canonical Allele Identifier: CA416107368

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11845754-C-T
• MyVariant Identifiers: chr1:g.11905811C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845754C>T , CM000663.2:g.11845754C>T	GRCh38
NC_000001.10:g.11905811C>T , CM000663.1:g.11905811C>T	GRCh37
NC_000001.9:g.11828398C>T	NCBI36
NG_012926.1:g.7030G>A , LRG_751:g.7030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1949C>T (CLCN6)	ENSP00000496938.1:n.*1949C>T
ENST00000446542.5:n.769C>T (NPPA-AS1)
ENST00000376480.7:c.*255G>A (NPPA) MANE Select	ENSP00000365663.3:n.*255G>A
ENST00000610706.1:c.*249G>A (NPPA)	ENSP00000483195.1:n.*249G>A
NM_006172.3:c.*255G>A , LRG_751t1:c.*255G>A (NPPA)	NP_006163.1:n.*255G>A
NR_037806.1:n.1467C>T (NPPA-AS1)
NM_006172.4:c.*255G>A (NPPA) MANE Select	NP_006163.1:n.*255G>A