Canonical Allele Identifier: CA276667830

Gene: CLCN7

Linked Data

• dbSNP Id: rs1030233468
• gnomAD v3: 16-1447206-C-A
• gnomAD v4: 16-1447206-C-A
• MyVariant Identifiers: chr16:g.1497207C>A (hg19) ; chr16:g.1447206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447206C>A , CM000678.2:g.1447206C>A	GRCh38
NC_000016.9:g.1497207C>A , CM000678.1:g.1497207C>A	GRCh37
NC_000016.8:g.1437208C>A	NCBI36
NG_007567.1:g.32879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-120G>T	ENSP00000514703.1:n.2251-120G>T
ENST00000699948.1:c.*564-120G>T	ENSP00000514704.1:n.*564-120G>T
ENST00000382745.9:c.2251-120G>T MANE Select	ENSP00000372193.4:n.2251-120G>T
ENST00000262318.12:c.2183-123G>T	ENSP00000262318.8:n.2183-123G>T
ENST00000382745.8:c.2251-120G>T	ENSP00000372193.4:n.2251-120G>T
ENST00000448525.5:c.2179-120G>T	ENSP00000410907.1:n.2179-120G>T
ENST00000563642.6:n.2320-120G>T
ENST00000565092.6:n.1286-120G>T
ENST00000567836.2:n.492-120G>T
NM_001114331.2:c.2179-120G>T	NP_001107803.1:n.2179-120G>T
NM_001287.5:c.2251-120G>T	NP_001278.1:n.2251-120G>T
XM_011522354.1:c.2077-120G>T	XP_011520656.1:n.2077-120G>T
NM_001287.6:c.2251-120G>T MANE Select	NP_001278.1:n.2251-120G>T
NM_001114331.3:c.2179-120G>T	NP_001107803.1:n.2179-120G>T