Canonical Allele Identifier: CA565018149
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1056997002
gnomAD v2: 6-1610163-G-A
gnomAD v3: 6-1609928-G-A
gnomAD v4: 6-1609928-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1609928G>A , CM000668.2:g.1609928G>A GRCh38
NC_000006.11:g.1610163G>A , CM000668.1:g.1610163G>A GRCh37
NC_000006.10:g.1555162G>A NCBI36
NG_009368.1:g.4483G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-518G>A MANE Select ENSP00000493906.1:n.-518G>A
NM_001453.3:c.-518G>A MANE Select NP_001444.2:n.-518G>A