Canonical Allele Identifier: CA595874

Linked Data

dbSNP Id: rs3737965
gnomAD v2: 1-11866451-G-A
gnomAD v3: 1-11806394-G-A
gnomAD v4: 1-11806394-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11806394G>A , CM000663.2:g.11806394G>A GRCh38
NC_000001.10:g.11866451G>A , CM000663.1:g.11866451G>A GRCh37
NC_000001.9:g.11789038G>A NCBI36
NG_008766.1:g.5245G>A
NG_013351.1:g.4710C>T , LRG_726:g.4710C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346436.11:c.87+45G>A (CLCN6) MANE Select ENSP00000234488.9:n.87+45G>A
ENST00000400892.3:c.87+45G>A (CLCN6) ENSP00000496938.1:n.87+45G>A
ENST00000641747.1:c.-520C>T (MTHFR) ENSP00000493116.1:n.-520C>T
ENST00000312413.10:c.87+45G>A (CLCN6) ENSP00000308367.7:n.87+45G>A
ENST00000346436.10:c.87+45G>A (CLCN6) ENSP00000234488.9:n.87+45G>A
ENST00000376486.2:c.-520C>T (MTHFR) ENSP00000365669.2:n.-520C>T
ENST00000376490.7:n.87+45G>A (CLCN6)
ENST00000376491.7:n.87+45G>A (CLCN6)
ENST00000376492.3:n.87+45G>A (CLCN6)
ENST00000376496.4:c.87+45G>A (CLCN6) ENSP00000365679.3:n.87+45G>A
ENST00000376497.7:c.87+45G>A (CLCN6) ENSP00000365680.3:n.87+45G>A
NM_001256959.1:c.87+45G>A (CLCN6) NP_001243888.1:n.87+45G>A
NM_001286.3:c.87+45G>A (CLCN6) NP_001277.1:n.87+45G>A
NR_046428.1:n.254+45G>A (CLCN6)
NM_001286.4:c.87+45G>A (CLCN6) NP_001277.1:n.87+45G>A
NM_001256959.2:c.87+45G>A (CLCN6) NP_001243888.2:n.87+45G>A
NM_001286.5:c.87+45G>A (CLCN6) MANE Select NP_001277.2:n.87+45G>A
NR_046428.2:n.159+45G>A (CLCN6)