Canonical Allele Identifier: CA10763150

Linked Data

ClinVar Variation Id: 1170440
ClinVar RCV Id: RCV001522805
dbSNP Id: rs13306560
gnomAD v2: 1-11866183-C-T
gnomAD v3: 1-11806126-C-T
gnomAD v4: 1-11806126-C-T

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)