Canonical Allele Identifier: CA394189234

Gene: CLCN7

Linked Data

• dbSNP Id: rs12926089
• gnomAD v2: 16-1502857-C-A
• gnomAD v4: 16-1452856-C-A
• MyVariant Identifiers: chr16:g.1502857C>A (hg19) ; chr16:g.1452856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1452856C>A , CM000678.2:g.1452856C>A	GRCh38
NC_000016.9:g.1502857C>A , CM000678.1:g.1502857C>A	GRCh37
NC_000016.8:g.1442858C>A	NCBI36
NG_007567.1:g.27229G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.1252G>T	ENSP00000514703.1:p.Val418Leu
ENST00000699948.1:c.1252G>T	ENSP00000514704.1:p.Val418Leu
ENST00000382745.9:c.1252G>T MANE Select	ENSP00000372193.4:p.Val418Leu
ENST00000262318.12:c.1180G>T	ENSP00000262318.8:p.Val394Leu
ENST00000382745.8:c.1252G>T	ENSP00000372193.4:p.Val418Leu
ENST00000448525.5:c.1180G>T	ENSP00000410907.1:p.Val394Leu
NM_001114331.2:c.1180G>T	NP_001107803.1:p.Val394Leu
NM_001287.5:c.1252G>T	NP_001278.1:p.Val418Leu
XM_011522354.1:c.1078G>T	XP_011520656.1:p.Val360Leu
NM_001287.6:c.1252G>T MANE Select	NP_001278.1:p.Val418Leu
NM_001114331.3:c.1180G>T	NP_001107803.1:p.Val394Leu