Canonical Allele Identifier: CA394185072

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447009-A-G
• MyVariant Identifiers: chr16:g.1497010A>G (hg19) ; chr16:g.1447009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447009A>G , CM000678.2:g.1447009A>G	GRCh38
NC_000016.9:g.1497010A>G , CM000678.1:g.1497010A>G	GRCh37
NC_000016.8:g.1437011A>G	NCBI36
NG_007567.1:g.33076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2328T>C	ENSP00000514703.1:p.Asn776=
ENST00000699948.1:c.*641T>C	ENSP00000514704.1:n.*641T>C
ENST00000382745.9:c.2328T>C MANE Select	ENSP00000372193.4:p.Asn776=
ENST00000262318.12:c.2257T>C	ENSP00000262318.8:p.Ser753Pro
ENST00000382745.8:c.2328T>C	ENSP00000372193.4:p.Asn776=
ENST00000448525.5:c.2256T>C	ENSP00000410907.1:p.Asn752=
ENST00000563642.6:n.2397T>C
ENST00000565092.6:n.1363T>C
ENST00000567836.2:n.569T>C
NM_001114331.2:c.2256T>C	NP_001107803.1:p.Asn752=
NM_001287.5:c.2328T>C	NP_001278.1:p.Asn776=
XM_011522354.1:c.2154T>C	XP_011520656.1:p.Asn718=
NM_001287.6:c.2328T>C MANE Select	NP_001278.1:p.Asn776=
NM_001114331.3:c.2256T>C	NP_001107803.1:p.Asn752=