Canonical Allele Identifier: CA3614760
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs144066933
gnomAD v2: 6-1611118-G-C
gnomAD v3: 6-1610883-G-C
gnomAD v4: 6-1610883-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610883G>C , CM000668.2:g.1610883G>C GRCh38
NC_000006.11:g.1611118G>C , CM000668.1:g.1611118G>C GRCh37
NC_000006.10:g.1556117G>C NCBI36
NG_009368.1:g.5438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.438G>C MANE Select ENSP00000493906.1:p.Pro146=
ENST00000380874.3:c.438G>C ENSP00000370256.2:p.Pro146=
NM_001453.2:c.438G>C NP_001444.2:p.Pro146=
NM_001453.3:c.438G>C MANE Select NP_001444.2:p.Pro146=