Canonical Allele Identifier: CA1153814204

Gene: CLCN6 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847686C= , CM000663.2:g.11847686C=	GRCh38
NC_000001.10:g.11907743C= , CM000663.1:g.11907743C=	GRCh37
NC_000001.9:g.11830330C=	NCBI36
NG_012926.1:g.5098G= , LRG_751:g.5098G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*2071C= (CLCN6)	ENSP00000496938.1:n.*2071C=
ENST00000376476.1:c.-27-247G= (NPPA)	ENSP00000365659.1:n.-27-247G=
ENST00000376480.7:c.-2G= (NPPA) MANE Select	ENSP00000365663.3:n.-2G=
ENST00000610706.1:c.-2G= (NPPA)	ENSP00000483195.1:n.-2G=
NM_006172.3:c.-2G= , LRG_751t1:c.-2G= (NPPA)	NP_006163.1:n.-2G=
NM_006172.4:c.-2G= (NPPA) MANE Select	NP_006163.1:n.-2G=