Canonical Allele Identifier: CA133392873
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs987045658
gnomAD v2: 6-1613431-G-C
gnomAD v3: 6-1613196-G-C
gnomAD v4: 6-1613196-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613196G>C , CM000668.2:g.1613196G>C GRCh38
NC_000006.11:g.1613431G>C , CM000668.1:g.1613431G>C GRCh37
NC_000006.10:g.1558430G>C NCBI36
NG_009368.1:g.7751G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1089G>C MANE Select ENSP00000493906.1:n.*1089G>C
ENST00000380874.3:c.*1089G>C ENSP00000370256.2:n.*1089G>C
NM_001453.2:c.2751G>C NP_001444.2:n.2751G>C
NM_001453.3:c.*1089G>C MANE Select NP_001444.2:n.*1089G>C