Canonical Allele Identifier: CA394189902

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1455238T>C , CM000678.2:g.1455238T>C	GRCh38
NC_000016.9:g.1505239T>C , CM000678.1:g.1505239T>C	GRCh37
NC_000016.8:g.1445240T>C	NCBI36
NG_007567.1:g.24847A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.994A>G MANE Select	NP_001278.1:p.Met332Val
ENST00000382745.9:c.994A>G MANE Select	ENSP00000372193.4:p.Met332Val
NM_001114331.2:c.922A>G	NP_001107803.1:p.Met308Val
NM_001114331.3:c.922A>G	NP_001107803.1:p.Met308Val
NM_001287.5:c.994A>G	NP_001278.1:p.Met332Val
ENST00000262318.12:c.922A>G	ENSP00000262318.8:p.Met308Val
ENST00000382745.8:c.994A>G	ENSP00000372193.4:p.Met332Val
ENST00000448525.5:c.922A>G	ENSP00000410907.1:p.Met308Val
ENST00000699947.1:c.994A>G	ENSP00000514703.1:p.Met332Val
ENST00000699948.1:c.994A>G	ENSP00000514704.1:p.Met332Val
ENST00000699950.1:n.946A>G
XM_011522354.1:c.820A>G	XP_011520656.1:p.Met274Val