Canonical Allele Identifier: CA886105940

Gene: CLCN6 NPPA

Linked Data

• dbSNP Id: rs1405546863
• gnomAD v4: 1-11847703-C-G
• MyVariant Identifiers: chr1:g.11907760C>G (hg19) ; chr1:g.11847703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847703C>G , CM000663.2:g.11847703C>G	GRCh38
NC_000001.10:g.11907760C>G , CM000663.1:g.11907760C>G	GRCh37
NC_000001.9:g.11830347C>G	NCBI36
NG_012926.1:g.5081G>C , LRG_751:g.5081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2088C>G (CLCN6)	ENSP00000496938.1:n.*2088C>G
ENST00000376476.1:c.-27-264G>C (NPPA)	ENSP00000365659.1:n.-27-264G>C
ENST00000376480.7:c.-19G>C (NPPA) MANE Select	ENSP00000365663.3:n.-19G>C
ENST00000610706.1:c.-19G>C (NPPA)	ENSP00000483195.1:n.-19G>C
NM_006172.3:c.-19G>C , LRG_751t1:c.-19G>C (NPPA)	NP_006163.1:n.-19G>C
NM_006172.4:c.-19G>C (NPPA) MANE Select	NP_006163.1:n.-19G>C