Canonical Allele Identifier: CA7810682

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1459141T>C , CM000678.2:g.1459141T>C	GRCh38
NC_000016.9:g.1509142T>C , CM000678.1:g.1509142T>C	GRCh37
NC_000016.8:g.1449143T>C	NCBI36
NG_007567.1:g.20944A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.641A>G MANE Select	NP_001278.1:p.Asn214Ser
ENST00000382745.9:c.641A>G MANE Select	ENSP00000372193.4:p.Asn214Ser
NM_001114331.2:c.569A>G	NP_001107803.1:p.Asn190Ser
NM_001114331.3:c.569A>G	NP_001107803.1:p.Asn190Ser
NM_001287.5:c.641A>G	NP_001278.1:p.Asn214Ser
ENST00000262318.12:c.569A>G	ENSP00000262318.8:p.Asn190Ser
ENST00000382745.8:c.641A>G	ENSP00000372193.4:p.Asn214Ser
ENST00000448525.5:c.569A>G	ENSP00000410907.1:p.Asn190Ser
ENST00000563822.1:n.272A>G
ENST00000564968.1:n.190A>G
ENST00000569851.6:c.467A>G	ENSP00000461009.1:p.Asn156Ser
ENST00000699947.1:c.641A>G	ENSP00000514703.1:p.Asn214Ser
ENST00000699948.1:c.641A>G	ENSP00000514704.1:p.Asn214Ser
ENST00000699950.1:n.593A>G
XM_011522354.1:c.467A>G	XP_011520656.1:p.Asn156Ser