Canonical Allele Identifier: CA565018145
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1274873267
gnomAD v2: 6-1610150-G-A
gnomAD v3: 6-1609915-G-A
gnomAD v4: 6-1609915-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1609915G>A , CM000668.2:g.1609915G>A GRCh38
NC_000006.11:g.1610150G>A , CM000668.1:g.1610150G>A GRCh37
NC_000006.10:g.1555149G>A NCBI36
NG_009368.1:g.4470G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-531G>A MANE Select ENSP00000493906.1:n.-531G>A
NM_001453.3:c.-531G>A MANE Select NP_001444.2:n.-531G>A