Canonical Allele Identifier: CA394187083

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1449293-C-G
• COSMIC: COSM5983829
• MyVariant Identifiers: chr16:g.1499294C>G (hg19) ; chr16:g.1449293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449293C>G , CM000678.2:g.1449293C>G	GRCh38
NC_000016.9:g.1499294C>G , CM000678.1:g.1499294C>G	GRCh37
NC_000016.8:g.1439295C>G	NCBI36
NG_007567.1:g.30792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1652G>C	ENSP00000514703.1:p.Gly551Ala
ENST00000699948.1:c.1624-200G>C	ENSP00000514704.1:n.1624-200G>C
ENST00000382745.9:c.1652G>C MANE Select	ENSP00000372193.4:p.Gly551Ala
ENST00000262318.12:c.1580G>C	ENSP00000262318.8:p.Gly527Ala
ENST00000382745.8:c.1652G>C	ENSP00000372193.4:p.Gly551Ala
ENST00000448525.5:c.1580G>C	ENSP00000410907.1:p.Gly527Ala
ENST00000563642.6:n.1721G>C
ENST00000565092.6:n.505G>C
NM_001114331.2:c.1580G>C	NP_001107803.1:p.Gly527Ala
NM_001287.5:c.1652G>C	NP_001278.1:p.Gly551Ala
XM_011522354.1:c.1478G>C	XP_011520656.1:p.Gly493Ala
NM_001287.6:c.1652G>C MANE Select	NP_001278.1:p.Gly551Ala
NM_001114331.3:c.1580G>C	NP_001107803.1:p.Gly527Ala