Canonical Allele Identifier: CA821650163
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1193006729
gnomAD v3: 6-1612856-TTTAA-T
gnomAD v4: 6-1612856-TTTAA-T
MyVariant Identifiers: chr6:g.1613092_1613095del (hg19) chr6:g.1612857_1612860del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612860_1612863del , CM000668.2:g.1612860_1612863del GRCh38
NC_000006.11:g.1613095_1613098del , CM000668.1:g.1613095_1613098del GRCh37
NC_000006.10:g.1558094_1558097del NCBI36
NG_009368.1:g.7415_7418del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.*753_*756del MANE Select ENSP00000493906.1:n.*753_*756del
ENST00000380874.3:c.*753_*756del ENSP00000370256.2:n.*753_*756del
NM_001453.2:c.2415_2418del NP_001444.2:n.2415_2418del
NM_001453.3:c.*753_*756del MANE Select NP_001444.2:n.*753_*756del
Search 100 bp 5'
Search 100 bp 3'