Canonical Allele Identifier: CA521195841
Gene: CLCN6 HGNC NCBI
NPPA HGNC NCBI

Linked Data

dbSNP Id: rs372733750
gnomAD v2: 1-11907748-G-C
gnomAD v4: 1-11847691-G-C
MyVariant Identifiers: chr1:g.11907748G>C (hg19) chr1:g.11847691G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847691G>C , CM000663.2:g.11847691G>C GRCh38
NC_000001.10:g.11907748G>C , CM000663.1:g.11907748G>C GRCh37
NC_000001.9:g.11830335G>C NCBI36
NG_012926.1:g.5093C>G , LRG_751:g.5093C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*2076G>C (CLCN6) ENSP00000496938.1:n.*2076G>C
ENST00000376476.1:c.-27-252C>G (NPPA) ENSP00000365659.1:n.-27-252C>G
ENST00000376480.7:c.-7C>G (NPPA) MANE Select ENSP00000365663.3:n.-7C>G
ENST00000610706.1:c.-7C>G (NPPA) ENSP00000483195.1:n.-7C>G
NM_006172.3:c.-7C>G , LRG_751t1:c.-7C>G (NPPA) NP_006163.1:n.-7C>G
NM_006172.4:c.-7C>G (NPPA) MANE Select NP_006163.1:n.-7C>G
Search 100 bp 5'
Search 100 bp 3'