Canonical Allele Identifier: CA521195796

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• ClinVar Variation Id: 2901893
• ClinVar RCV Id: RCV003632657
• dbSNP Id: rs1475348735
• gnomAD v2: 1-11907162-C-T
• gnomAD v3: 1-11847105-C-T
• gnomAD v4: 1-11847105-C-T
• MyVariant Identifiers: chr1:g.11907162C>T (hg19) ; chr1:g.11847105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847105C>T , CM000663.2:g.11847105C>T	GRCh38
NC_000001.10:g.11907162C>T , CM000663.1:g.11907162C>T	GRCh37
NC_000001.9:g.11829749C>T	NCBI36
NG_012926.1:g.5679G>A , LRG_751:g.5679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-472C>T (CLCN6)	ENSP00000496938.1:n.*1962-472C>T
ENST00000446542.5:n.782-329C>T (NPPA-AS1)
ENST00000376476.1:c.300+8G>A (NPPA)	ENSP00000365659.1:n.300+8G>A
ENST00000376480.7:c.450+8G>A (NPPA) MANE Select	ENSP00000365663.3:n.450+8G>A
ENST00000610706.1:c.450+8G>A (NPPA)	ENSP00000483195.1:n.450+8G>A
NM_006172.3:c.450+8G>A , LRG_751t1:c.450+8G>A (NPPA)	NP_006163.1:n.450+8G>A
NR_037806.1:n.1480-329C>T (NPPA-AS1)
NM_006172.4:c.450+8G>A (NPPA) MANE Select	NP_006163.1:n.450+8G>A