Canonical Allele Identifier: CA362558690
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1610824-C-T
MyVariant Identifiers: chr6:g.1611059C>T (hg19) chr6:g.1610824C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610824C>T , CM000668.2:g.1610824C>T GRCh38
NC_000006.11:g.1611059C>T , CM000668.1:g.1611059C>T GRCh37
NC_000006.10:g.1556058C>T NCBI36
NG_009368.1:g.5379C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.379C>T MANE Select ENSP00000493906.1:p.Arg127Cys
ENST00000380874.3:c.379C>T ENSP00000370256.2:p.Arg127Cys
NM_001453.2:c.379C>T NP_001444.2:p.Arg127Cys
NM_001453.3:c.379C>T MANE Select NP_001444.2:p.Arg127Cys
Search 100 bp 5'
Search 100 bp 3'