Canonical Allele Identifier: CA7809864

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2416733
• ClinVar RCV Id: RCV003108984
• dbSNP Id: rs140032494
• ExAC: 16:1497080 G / A
• gnomAD v2: 16-1497080-G-A
• gnomAD v3: 16-1447079-G-A
• gnomAD v4: 16-1447079-G-A
• COSMIC: COSM3887935
• MyVariant Identifiers: chr16:g.1497080G>A (hg19) ; chr16:g.1447079G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447079G>A , CM000678.2:g.1447079G>A	GRCh38
NC_000016.9:g.1497080G>A , CM000678.1:g.1497080G>A	GRCh37
NC_000016.8:g.1437081G>A	NCBI36
NG_007567.1:g.33006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2258C>T	ENSP00000514703.1:p.Ser753Leu
ENST00000699948.1:c.*571C>T	ENSP00000514704.1:n.*571C>T
ENST00000382745.9:c.2258C>T MANE Select	ENSP00000372193.4:p.Ser753Leu
ENST00000262318.12:c.2187C>T	ENSP00000262318.8:p.Val729=
ENST00000382745.8:c.2258C>T	ENSP00000372193.4:p.Ser753Leu
ENST00000448525.5:c.2186C>T	ENSP00000410907.1:p.Ser729Leu
ENST00000563642.6:n.2327C>T
ENST00000565092.6:n.1293C>T
ENST00000567836.2:n.499C>T
NM_001114331.2:c.2186C>T	NP_001107803.1:p.Ser729Leu
NM_001287.5:c.2258C>T	NP_001278.1:p.Ser753Leu
XM_011522354.1:c.2084C>T	XP_011520656.1:p.Ser695Leu
NM_001287.6:c.2258C>T MANE Select	NP_001278.1:p.Ser753Leu
NM_001114331.3:c.2186C>T	NP_001107803.1:p.Ser729Leu