Canonical Allele Identifier: CA338451312

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• dbSNP Id: rs193042707
• gnomAD v2: 1-11907439-G-T
• gnomAD v4: 1-11847382-G-T
• MyVariant Identifiers: chr1:g.11907439G>T (hg19) ; chr1:g.11847382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847382G>T , CM000663.2:g.11847382G>T	GRCh38
NC_000001.10:g.11907439G>T , CM000663.1:g.11907439G>T	GRCh37
NC_000001.9:g.11830026G>T	NCBI36
NG_012926.1:g.5402C>A , LRG_751:g.5402C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-195G>T (CLCN6)	ENSP00000496938.1:n.*1962-195G>T
ENST00000446542.5:n.782-52G>T (NPPA-AS1)
ENST00000376476.1:c.31C>A (NPPA)	ENSP00000365659.1:p.Gln11Lys
ENST00000376480.7:c.181C>A (NPPA) MANE Select	ENSP00000365663.3:p.Gln61Lys
ENST00000610706.1:c.181C>A (NPPA)	ENSP00000483195.1:p.Gln61Lys
NM_006172.3:c.181C>A , LRG_751t1:c.181C>A (NPPA)	NP_006163.1:p.Gln61Lys
NR_037806.1:n.1480-52G>T (NPPA-AS1)
NM_006172.4:c.181C>A (NPPA) MANE Select	NP_006163.1:p.Gln61Lys