Canonical Allele Identifier: CA362558021
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762515900
gnomAD v3: 6-1610518-T-G
gnomAD v4: 6-1610518-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610518T>G , CM000668.2:g.1610518T>G GRCh38
NC_000006.11:g.1610753T>G , CM000668.1:g.1610753T>G GRCh37
NC_000006.10:g.1555752T>G NCBI36
NG_009368.1:g.5073T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.73T>G MANE Select ENSP00000493906.1:p.Tyr25Asp
ENST00000380874.3:c.73T>G ENSP00000370256.2:p.Tyr25Asp
NM_001453.2:c.73T>G NP_001444.2:p.Tyr25Asp
NM_001453.3:c.73T>G MANE Select NP_001444.2:p.Tyr25Asp