Canonical Allele Identifier: CA565018292
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1268814441
gnomAD v2: 6-1613061-G-T
gnomAD v3: 6-1612826-G-T
gnomAD v4: 6-1612826-G-T
MyVariant Identifiers: chr6:g.1613061G>T (hg19) chr6:g.1612826G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612826G>T , CM000668.2:g.1612826G>T GRCh38
NC_000006.11:g.1613061G>T , CM000668.1:g.1613061G>T GRCh37
NC_000006.10:g.1558060G>T NCBI36
NG_009368.1:g.7381G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*719G>T MANE Select ENSP00000493906.1:n.*719G>T
ENST00000380874.3:c.*719G>T ENSP00000370256.2:n.*719G>T
NM_001453.2:c.2381G>T NP_001444.2:n.2381G>T
NM_001453.3:c.*719G>T MANE Select NP_001444.2:n.*719G>T
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