Canonical Allele Identifier: CA235497
Gene: FOXC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.1612841A>T
GRCh37 chr6:g.1613076A>T
gnomAD v2:
6:1613076 A / T
gnomAD v3:
6:1612841 A / T
gnomAD v4:
chr6-1612841-A-T
Joint Max Group AF 0.00482464 (NFE)
Genomes Max Group AF 0.00468539 (NFE)
Exomes Max Group AF 0.0046768 (NFE)
ClinVar RCV:
RCV000162082
RCV002247558
ClinVar Variation:
183249
dbSNP:
35717904
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612841A>T , CM000668.2:g.1612841A>T GRCh38
NC_000006.11:g.1613076A>T , CM000668.1:g.1613076A>T GRCh37
NC_000006.10:g.1558075A>T NCBI36
NG_009368.1:g.7396A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*734A>T MANE Select ENSP00000493906.1:n.*734A>T
ENST00000380874.3:c.*734A>T ENSP00000370256.2:n.*734A>T
NM_001453.2:c.2396A>T NP_001444.2:n.2396A>T
NM_001453.3:c.*734A>T MANE Select NP_001444.2:n.*734A>T
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