Canonical Allele Identifier: CA416107323

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• MyVariant Identifiers: chr1:g.11905797T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11845740T>G , CM000663.2:g.11845740T>G	GRCh38
NC_000001.10:g.11905797T>G , CM000663.1:g.11905797T>G	GRCh37
NC_000001.9:g.11828384T>G	NCBI36
NG_012926.1:g.7044A>C , LRG_751:g.7044A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400892.3:c.*1935T>G (CLCN6)	ENSP00000496938.1:n.*1935T>G
ENST00000446542.5:n.755T>G (NPPA-AS1)
ENST00000376480.7:c.*269A>C (NPPA) MANE Select	ENSP00000365663.3:n.*269A>C
ENST00000610706.1:c.*263A>C (NPPA)	ENSP00000483195.1:n.*263A>C
NM_006172.3:c.*269A>C , LRG_751t1:c.*269A>C (NPPA)	NP_006163.1:n.*269A>C
NR_037806.1:n.1453T>G (NPPA-AS1)
NM_006172.4:c.*269A>C (NPPA) MANE Select	NP_006163.1:n.*269A>C