Canonical Allele Identifier: CA338451035
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs1486885368
gnomAD v2: 1-11907400-G-C
COSMIC: COSM388822
MyVariant Identifiers: chr1:g.11907400G>C (hg19) chr1:g.11847343G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847343G>C , CM000663.2:g.11847343G>C GRCh38
NC_000001.10:g.11907400G>C , CM000663.1:g.11907400G>C GRCh37
NC_000001.9:g.11829987G>C NCBI36
NG_012926.1:g.5441C>G , LRG_751:g.5441C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-234G>C (CLCN6) ENSP00000496938.1:n.*1962-234G>C
ENST00000446542.5:n.782-91G>C (NPPA-AS1)
ENST00000376476.1:c.70C>G (NPPA) ENSP00000365659.1:p.Leu24Val
ENST00000376480.7:c.220C>G (NPPA) MANE Select ENSP00000365663.3:p.Leu74Val
ENST00000610706.1:c.220C>G (NPPA) ENSP00000483195.1:p.Leu74Val
NM_006172.3:c.220C>G , LRG_751t1:c.220C>G (NPPA) NP_006163.1:p.Leu74Val
NR_037806.1:n.1480-91G>C (NPPA-AS1)
NM_006172.4:c.220C>G (NPPA) MANE Select NP_006163.1:p.Leu74Val
Search 100 bp 5'
Search 100 bp 3'