Canonical Allele Identifier: CA416107287

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v4: 1-11845730-T-C
• MyVariant Identifiers: chr1:g.11905787T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845730T>C , CM000663.2:g.11845730T>C	GRCh38
NC_000001.10:g.11905787T>C , CM000663.1:g.11905787T>C	GRCh37
NC_000001.9:g.11828374T>C	NCBI36
NG_012926.1:g.7054A>G , LRG_751:g.7054A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1925T>C (CLCN6)	ENSP00000496938.1:n.*1925T>C
ENST00000446542.5:n.745T>C (NPPA-AS1)
ENST00000376480.7:c.*279A>G (NPPA) MANE Select	ENSP00000365663.3:n.*279A>G
ENST00000610706.1:c.*273A>G (NPPA)	ENSP00000483195.1:n.*273A>G
NM_006172.3:c.*279A>G , LRG_751t1:c.*279A>G (NPPA)	NP_006163.1:n.*279A>G
NR_037806.1:n.1443T>C (NPPA-AS1)
NM_006172.4:c.*279A>G (NPPA) MANE Select	NP_006163.1:n.*279A>G