Canonical Allele Identifier: CA3614717
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs533710669
gnomAD v2: 6-1610878-C-G
gnomAD v3: 6-1610643-C-G
gnomAD v4: 6-1610643-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610643C>G , CM000668.2:g.1610643C>G GRCh38
NC_000006.11:g.1610878C>G , CM000668.1:g.1610878C>G GRCh37
NC_000006.10:g.1555877C>G NCBI36
NG_009368.1:g.5198C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.198C>G MANE Select ENSP00000493906.1:p.Pro66=
ENST00000380874.3:c.198C>G ENSP00000370256.2:p.Pro66=
NM_001453.2:c.198C>G NP_001444.2:p.Pro66=
NM_001453.3:c.198C>G MANE Select NP_001444.2:p.Pro66=