Canonical Allele Identifier: CA394185386

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038659963
• gnomAD v4: 16-1447075-G-A
• MyVariant Identifiers: chr16:g.1497076G>A (hg19) ; chr16:g.1447075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447075G>A , CM000678.2:g.1447075G>A	GRCh38
NC_000016.9:g.1497076G>A , CM000678.1:g.1497076G>A	GRCh37
NC_000016.8:g.1437077G>A	NCBI36
NG_007567.1:g.33010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2262C>T	ENSP00000514703.1:p.Leu754=
ENST00000699948.1:c.*575C>T	ENSP00000514704.1:n.*575C>T
ENST00000382745.9:c.2262C>T MANE Select	ENSP00000372193.4:p.Leu754=
ENST00000262318.12:c.2191C>T	ENSP00000262318.8:p.Pro731Ser
ENST00000382745.8:c.2262C>T	ENSP00000372193.4:p.Leu754=
ENST00000448525.5:c.2190C>T	ENSP00000410907.1:p.Leu730=
ENST00000563642.6:n.2331C>T
ENST00000565092.6:n.1297C>T
ENST00000567836.2:n.503C>T
NM_001114331.2:c.2190C>T	NP_001107803.1:p.Leu730=
NM_001287.5:c.2262C>T	NP_001278.1:p.Leu754=
XM_011522354.1:c.2088C>T	XP_011520656.1:p.Leu696=
NM_001287.6:c.2262C>T MANE Select	NP_001278.1:p.Leu754=
NM_001114331.3:c.2190C>T	NP_001107803.1:p.Leu730=