Canonical Allele Identifier: CA416107336

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• MyVariant Identifiers: chr1:g.11905801T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845744T>G , CM000663.2:g.11845744T>G	GRCh38
NC_000001.10:g.11905801T>G , CM000663.1:g.11905801T>G	GRCh37
NC_000001.9:g.11828388T>G	NCBI36
NG_012926.1:g.7040A>C , LRG_751:g.7040A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1939T>G (CLCN6)	ENSP00000496938.1:n.*1939T>G
ENST00000446542.5:n.759T>G (NPPA-AS1)
ENST00000376480.7:c.*265A>C (NPPA) MANE Select	ENSP00000365663.3:n.*265A>C
ENST00000610706.1:c.*259A>C (NPPA)	ENSP00000483195.1:n.*259A>C
NM_006172.3:c.*265A>C , LRG_751t1:c.*265A>C (NPPA)	NP_006163.1:n.*265A>C
NR_037806.1:n.1457T>G (NPPA-AS1)
NM_006172.4:c.*265A>C (NPPA) MANE Select	NP_006163.1:n.*265A>C