Canonical Allele Identifier: CA416107385

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11845759-A-G
• MyVariant Identifiers: chr1:g.11905816A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845759A>G , CM000663.2:g.11845759A>G	GRCh38
NC_000001.10:g.11905816A>G , CM000663.1:g.11905816A>G	GRCh37
NC_000001.9:g.11828403A>G	NCBI36
NG_012926.1:g.7025T>C , LRG_751:g.7025T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1954A>G (CLCN6)	ENSP00000496938.1:n.*1954A>G
ENST00000446542.5:n.774A>G (NPPA-AS1)
ENST00000376480.7:c.*250T>C (NPPA) MANE Select	ENSP00000365663.3:n.*250T>C
ENST00000610706.1:c.*244T>C (NPPA)	ENSP00000483195.1:n.*244T>C
NM_006172.3:c.*250T>C , LRG_751t1:c.*250T>C (NPPA)	NP_006163.1:n.*250T>C
NR_037806.1:n.1472A>G (NPPA-AS1)
NM_006172.4:c.*250T>C (NPPA) MANE Select	NP_006163.1:n.*250T>C