Canonical Allele Identifier: CA1085285117
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762583705
gnomAD v3: 6-1613021-C-CTATA
gnomAD v4: 6-1613021-C-CTATA
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613024_1613027dup , CM000668.2:g.1613024_1613027dup GRCh38
NC_000006.11:g.1613259_1613262dup , CM000668.1:g.1613259_1613262dup GRCh37
NC_000006.10:g.1558258_1558261dup NCBI36
NG_009368.1:g.7579_7582dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*917_*920dup MANE Select ENSP00000493906.1:n.*917_*920dup
ENST00000380874.3:c.*917_*920dup ENSP00000370256.2:n.*917_*920dup
NM_001453.2:c.2579_2582dup NP_001444.2:n.2579_2582dup
NM_001453.3:c.*917_*920dup MANE Select NP_001444.2:n.*917_*920dup
Search 100 bp 5'
Search 100 bp 3'