Canonical Allele Identifier: CA276683260

Gene: CLCN7

Linked Data

• dbSNP Id: rs963204886
• MyVariant Identifiers: chr16:g.1511184G>A (hg19) ; chr16:g.1461183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461183G>A , CM000678.2:g.1461183G>A	GRCh38
NC_000016.9:g.1511184G>A , CM000678.1:g.1511184G>A	GRCh37
NC_000016.8:g.1451185G>A	NCBI36
NG_007567.1:g.18902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+222C>T	ENSP00000514703.1:n.351+222C>T
ENST00000699948.1:c.351+222C>T	ENSP00000514704.1:n.351+222C>T
ENST00000699950.1:n.303+222C>T
ENST00000382745.9:c.351+222C>T MANE Select	ENSP00000372193.4:n.351+222C>T
ENST00000262318.12:c.279+222C>T	ENSP00000262318.8:n.279+222C>T
ENST00000382745.8:c.351+222C>T	ENSP00000372193.4:n.351+222C>T
ENST00000448525.5:c.279+222C>T	ENSP00000410907.1:n.279+222C>T
ENST00000561665.5:n.381+222C>T
ENST00000564568.1:c.246+222C>T	ENSP00000454845.1:n.246+222C>T
ENST00000567139.1:n.402+222C>T
ENST00000569851.6:c.177+222C>T	ENSP00000461009.1:n.177+222C>T
NM_001114331.2:c.279+222C>T	NP_001107803.1:n.279+222C>T
NM_001287.5:c.351+222C>T	NP_001278.1:n.351+222C>T
XM_011522354.1:c.177+222C>T	XP_011520656.1:n.177+222C>T
NM_001287.6:c.351+222C>T MANE Select	NP_001278.1:n.351+222C>T
NM_001114331.3:c.279+222C>T	NP_001107803.1:n.279+222C>T