Canonical Allele Identifier: CA565018307
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs140591342
gnomAD v2: 6-1613361-C-T
gnomAD v3: 6-1613126-C-T
gnomAD v4: 6-1613126-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613126C>T , CM000668.2:g.1613126C>T GRCh38
NC_000006.11:g.1613361C>T , CM000668.1:g.1613361C>T GRCh37
NC_000006.10:g.1558360C>T NCBI36
NG_009368.1:g.7681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1019C>T MANE Select ENSP00000493906.1:n.*1019C>T
ENST00000380874.3:c.*1019C>T ENSP00000370256.2:n.*1019C>T
NM_001453.2:c.2681C>T NP_001444.2:n.2681C>T
NM_001453.3:c.*1019C>T MANE Select NP_001444.2:n.*1019C>T