Canonical Allele Identifier: CA565018154
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1461213339
gnomAD v2: 6-1610197-C-T
gnomAD v3: 6-1609962-C-T
gnomAD v4: 6-1609962-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1609962C>T , CM000668.2:g.1609962C>T GRCh38
NC_000006.11:g.1610197C>T , CM000668.1:g.1610197C>T GRCh37
NC_000006.10:g.1555196C>T NCBI36
NG_009368.1:g.4517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-484C>T MANE Select ENSP00000493906.1:n.-484C>T
NM_001453.3:c.-484C>T MANE Select NP_001444.2:n.-484C>T