Canonical Allele Identifier: CA10576001

Gene: CLCN4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10185075G>A , CM000685.2:g.10185075G>A	GRCh38
NC_000023.10:g.10153115G>A , CM000685.1:g.10153115G>A	GRCh37
NC_000023.9:g.10113115G>A	NCBI36
NG_012496.1:g.33131G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001830.4:c.43G>A MANE Select	NP_001821.2:p.Asp15Asn
ENST00000380833.9:c.43G>A MANE Select	ENSP00000370213.4:p.Asp15Asn
NM_001256944.1:c.-38-9836G>A	NP_001243873.1:n.-38-9836G>A
NM_001256944.2:c.-38-9836G>A	NP_001243873.1:n.-38-9836G>A
NM_001830.3:c.43G>A	NP_001821.2:p.Asp15Asn
ENST00000380829.5:c.43G>A	ENSP00000370209.1:p.Asp15Asn
ENST00000380833.8:c.43G>A	ENSP00000370213.4:p.Asp15Asn
ENST00000421085.6:c.-38-9836G>A	ENSP00000405754.2:n.-38-9836G>A
ENST00000421085.7:c.43G>A	ENSP00000405754.3:p.Asp15Asn
ENST00000454850.1:c.43G>A	ENSP00000403064.1:p.Asp15Asn
ENST00000674669.1:c.-38-9836G>A	ENSP00000501922.1:n.-38-9836G>A
ENST00000675144.1:c.43G>A	ENSP00000501600.1:p.Asp15Asn
ENST00000675769.1:c.43G>A	ENSP00000502110.1:p.Asp15Asn