Canonical Allele Identifier: CA394187190

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1499328T>A (hg19) ; chr16:g.1449327T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449327T>A , CM000678.2:g.1449327T>A	GRCh38
NC_000016.9:g.1499328T>A , CM000678.1:g.1499328T>A	GRCh37
NC_000016.8:g.1439329T>A	NCBI36
NG_007567.1:g.30758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1618A>T	ENSP00000514703.1:p.Ile540Phe
ENST00000699948.1:c.1624-234A>T	ENSP00000514704.1:n.1624-234A>T
ENST00000382745.9:c.1618A>T MANE Select	ENSP00000372193.4:p.Ile540Phe
ENST00000262318.12:c.1546A>T	ENSP00000262318.8:p.Ile516Phe
ENST00000382745.8:c.1618A>T	ENSP00000372193.4:p.Ile540Phe
ENST00000448525.5:c.1546A>T	ENSP00000410907.1:p.Ile516Phe
ENST00000563642.6:n.1687A>T
ENST00000565092.6:n.471A>T
NM_001114331.2:c.1546A>T	NP_001107803.1:p.Ile516Phe
NM_001287.5:c.1618A>T	NP_001278.1:p.Ile540Phe
XM_011522354.1:c.1444A>T	XP_011520656.1:p.Ile482Phe
NM_001287.6:c.1618A>T MANE Select	NP_001278.1:p.Ile540Phe
NM_001114331.3:c.1546A>T	NP_001107803.1:p.Ile516Phe