Canonical Allele Identifier: CA565356166
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1337369186
gnomAD v2: 6-1610551-A-C
gnomAD v3: 6-1610316-A-C
gnomAD v4: 6-1610316-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610316A>C , CM000668.2:g.1610316A>C GRCh38
NC_000006.11:g.1610551A>C , CM000668.1:g.1610551A>C GRCh37
NC_000006.10:g.1555550A>C NCBI36
NG_009368.1:g.4871A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-130A>C MANE Select ENSP00000493906.1:n.-130A>C
ENST00000380874.3:c.-130A>C ENSP00000370256.2:n.-130A>C
NM_001453.3:c.-130A>C MANE Select NP_001444.2:n.-130A>C