Canonical Allele Identifier: CA565018148
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1486569883
gnomAD v2: 6-1610161-C-T
gnomAD v3: 6-1609926-C-T
gnomAD v4: 6-1609926-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1609926C>T , CM000668.2:g.1609926C>T GRCh38
NC_000006.11:g.1610161C>T , CM000668.1:g.1610161C>T GRCh37
NC_000006.10:g.1555160C>T NCBI36
NG_009368.1:g.4481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-520C>T MANE Select ENSP00000493906.1:n.-520C>T
NM_001453.3:c.-520C>T MANE Select NP_001444.2:n.-520C>T