Canonical Allele Identifier: CA394192327

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510817T>A (hg19) ; chr16:g.1460816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460816T>A , CM000678.2:g.1460816T>A	GRCh38
NC_000016.9:g.1510817T>A , CM000678.1:g.1510817T>A	GRCh37
NC_000016.8:g.1450818T>A	NCBI36
NG_007567.1:g.19269A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.484A>T	ENSP00000514703.1:p.Asn162Tyr
ENST00000699948.1:c.484A>T	ENSP00000514704.1:p.Asn162Tyr
ENST00000699950.1:n.436A>T
ENST00000382745.9:c.484A>T MANE Select	ENSP00000372193.4:p.Asn162Tyr
ENST00000262318.12:c.412A>T	ENSP00000262318.8:p.Asn138Tyr
ENST00000382745.8:c.484A>T	ENSP00000372193.4:p.Asn162Tyr
ENST00000448525.5:c.412A>T	ENSP00000410907.1:p.Asn138Tyr
ENST00000561665.5:n.514A>T
ENST00000567139.1:n.535A>T
ENST00000569851.6:c.310A>T	ENSP00000461009.1:p.Asn104Tyr
NM_001114331.2:c.412A>T	NP_001107803.1:p.Asn138Tyr
NM_001287.5:c.484A>T	NP_001278.1:p.Asn162Tyr
XM_011522354.1:c.310A>T	XP_011520656.1:p.Asn104Tyr
NM_001287.6:c.484A>T MANE Select	NP_001278.1:p.Asn162Tyr
NM_001114331.3:c.412A>T	NP_001107803.1:p.Asn138Tyr