Canonical Allele Identifier: CA133392872
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs954747882
gnomAD v2: 6-1613418-G-C
gnomAD v3: 6-1613183-G-C
gnomAD v4: 6-1613183-G-C
MyVariant Identifiers: chr6:g.1613418G>C (hg19) chr6:g.1613183G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613183G>C , CM000668.2:g.1613183G>C GRCh38
NC_000006.11:g.1613418G>C , CM000668.1:g.1613418G>C GRCh37
NC_000006.10:g.1558417G>C NCBI36
NG_009368.1:g.7738G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1076G>C MANE Select ENSP00000493906.1:n.*1076G>C
ENST00000380874.3:c.*1076G>C ENSP00000370256.2:n.*1076G>C
NM_001453.2:c.2738G>C NP_001444.2:n.2738G>C
NM_001453.3:c.*1076G>C MANE Select NP_001444.2:n.*1076G>C
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