Canonical Allele Identifier: CA1085284819
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762575673
gnomAD v3: 6-1612525-A-T
gnomAD v4: 6-1612525-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612525A>T , CM000668.2:g.1612525A>T GRCh38
NC_000006.11:g.1612760A>T , CM000668.1:g.1612760A>T GRCh37
NC_000006.10:g.1557759A>T NCBI36
NG_009368.1:g.7080A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*418A>T MANE Select ENSP00000493906.1:n.*418A>T
ENST00000380874.3:c.*418A>T ENSP00000370256.2:n.*418A>T
NM_001453.2:c.2080A>T NP_001444.2:n.2080A>T
NM_001453.3:c.*418A>T MANE Select NP_001444.2:n.*418A>T