Canonical Allele Identifier: CA362559222
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1611067-C-T
MyVariant Identifiers: chr6:g.1611302C>T (hg19) chr6:g.1611067C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611067C>T , CM000668.2:g.1611067C>T GRCh38
NC_000006.11:g.1611302C>T , CM000668.1:g.1611302C>T GRCh37
NC_000006.10:g.1556301C>T NCBI36
NG_009368.1:g.5622C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.622C>T MANE Select ENSP00000493906.1:p.Gln208Ter
ENST00000380874.3:c.622C>T ENSP00000370256.2:p.Gln208Ter
NM_001453.2:c.622C>T NP_001444.2:p.Gln208Ter
NM_001453.3:c.622C>T MANE Select NP_001444.2:p.Gln208Ter
Search 100 bp 5'
Search 100 bp 3'