Canonical Allele Identifier: CA1085285050
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1554101238
gnomAD v3: 6-1612933-G-T
gnomAD v4: 6-1612933-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612933G>T , CM000668.2:g.1612933G>T GRCh38
NC_000006.11:g.1613168G>T , CM000668.1:g.1613168G>T GRCh37
NC_000006.10:g.1558167G>T NCBI36
NG_009368.1:g.7488G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*826G>T MANE Select ENSP00000493906.1:n.*826G>T
ENST00000380874.3:c.*826G>T ENSP00000370256.2:n.*826G>T
NM_001453.2:c.2488G>T NP_001444.2:n.2488G>T
NM_001453.3:c.*826G>T MANE Select NP_001444.2:n.*826G>T