Canonical Allele Identifier: CA394185710

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497512A>C (hg19) ; chr16:g.1447511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447511A>C , CM000678.2:g.1447511A>C	GRCh38
NC_000016.9:g.1497512A>C , CM000678.1:g.1497512A>C	GRCh37
NC_000016.8:g.1437513A>C	NCBI36
NG_007567.1:g.32574T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.2131T>G	ENSP00000514703.1:p.Phe711Val
ENST00000699948.1:c.*444T>G	ENSP00000514704.1:n.*444T>G
ENST00000382745.9:c.2131T>G MANE Select	ENSP00000372193.4:p.Phe711Val
ENST00000262318.12:c.2059T>G	ENSP00000262318.8:p.Phe687Val
ENST00000382745.8:c.2131T>G	ENSP00000372193.4:p.Phe711Val
ENST00000448525.5:c.2059T>G	ENSP00000410907.1:p.Phe687Val
ENST00000563642.6:n.2200T>G
ENST00000565092.6:n.1166T>G
ENST00000567836.2:n.372T>G
NM_001114331.2:c.2059T>G	NP_001107803.1:p.Phe687Val
NM_001287.5:c.2131T>G	NP_001278.1:p.Phe711Val
XM_011522354.1:c.1957T>G	XP_011520656.1:p.Phe653Val
NM_001287.6:c.2131T>G MANE Select	NP_001278.1:p.Phe711Val
NM_001114331.3:c.2059T>G	NP_001107803.1:p.Phe687Val