Canonical Allele Identifier: CA565018309
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1298626264
gnomAD v2: 6-1613435-G-A
gnomAD v3: 6-1613200-G-A
gnomAD v4: 6-1613200-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613200G>A , CM000668.2:g.1613200G>A GRCh38
NC_000006.11:g.1613435G>A , CM000668.1:g.1613435G>A GRCh37
NC_000006.10:g.1558434G>A NCBI36
NG_009368.1:g.7755G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1093G>A MANE Select ENSP00000493906.1:n.*1093G>A
ENST00000380874.3:c.*1093G>A ENSP00000370256.2:n.*1093G>A
NM_001453.2:c.2755G>A NP_001444.2:n.2755G>A
NM_001453.3:c.*1093G>A MANE Select NP_001444.2:n.*1093G>A