Canonical Allele Identifier: CA394192401

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510838T>G (hg19) ; chr16:g.1460837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460837T>G , CM000678.2:g.1460837T>G	GRCh38
NC_000016.9:g.1510838T>G , CM000678.1:g.1510838T>G	GRCh37
NC_000016.8:g.1450839T>G	NCBI36
NG_007567.1:g.19248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.463A>C	ENSP00000514703.1:p.Lys155Gln
ENST00000699948.1:c.463A>C	ENSP00000514704.1:p.Lys155Gln
ENST00000699950.1:n.415A>C
ENST00000382745.9:c.463A>C MANE Select	ENSP00000372193.4:p.Lys155Gln
ENST00000262318.12:c.391A>C	ENSP00000262318.8:p.Lys131Gln
ENST00000382745.8:c.463A>C	ENSP00000372193.4:p.Lys155Gln
ENST00000448525.5:c.391A>C	ENSP00000410907.1:p.Lys131Gln
ENST00000561665.5:n.493A>C
ENST00000567139.1:n.514A>C
ENST00000569851.6:c.289A>C	ENSP00000461009.1:p.Lys97Gln
NM_001114331.2:c.391A>C	NP_001107803.1:p.Lys131Gln
NM_001287.5:c.463A>C	NP_001278.1:p.Lys155Gln
XM_011522354.1:c.289A>C	XP_011520656.1:p.Lys97Gln
NM_001287.6:c.463A>C MANE Select	NP_001278.1:p.Lys155Gln
NM_001114331.3:c.391A>C	NP_001107803.1:p.Lys131Gln