Canonical Allele Identifier: CA10763150
Gene: MTHFR HGNC NCBI
CLCN6 HGNC NCBI
COSMIC:
COSN6504604 (not active)
MyVariant.info:
GRCh38 chr1:g.11806126C>T
GRCh37 chr1:g.11866183C>T
gnomAD v2:
1:11866183 C / T
gnomAD v3:
1:11806126 C / T
gnomAD v4:
chr1-11806126-C-T
Joint Max Group AF 0.10258399 (MID)
Genomes Max Group AF 0.05277511 (NFE)
Exomes Max Group AF 0.10521756 (MID)
ClinVar RCV:
RCV001522805
ClinVar Variation:
1170440
dbSNP:
13306560
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11806126C>T , CM000663.2:g.11806126C>T GRCh38
NC_000001.10:g.11866183C>T , CM000663.1:g.11866183C>T GRCh37
NC_000001.9:g.11788770C>T NCBI36
NG_008766.1:g.4977C>T
NG_013351.1:g.4978G>A , LRG_726:g.4978G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000641747.1:c.-252G>A (MTHFR) ENSP00000493116.1:n.-252G>A
ENST00000312413.10:c.-137C>T (CLCN6) ENSP00000308367.7:n.-137C>T
ENST00000376486.2:c.-252G>A (MTHFR) ENSP00000365669.2:n.-252G>A
NM_001256959.1:c.-137C>T (CLCN6) NP_001243888.1:n.-137C>T
NM_001286.3:c.-137C>T (CLCN6) NP_001277.1:n.-137C>T
NR_046428.1:n.31C>T (CLCN6)
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