Canonical Allele Identifier: CA362558453
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1466390
ClinVar RCV Id: RCV001966069
dbSNP Id: rs2113111355
MyVariant Identifiers: chr6:g.1610955A>C (hg19) chr6:g.1610720A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610720A>C , CM000668.2:g.1610720A>C GRCh38
NC_000006.11:g.1610955A>C , CM000668.1:g.1610955A>C GRCh37
NC_000006.10:g.1555954A>C NCBI36
NG_009368.1:g.5275A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.275A>C MANE Select ENSP00000493906.1:p.Gln92Pro
ENST00000380874.3:c.275A>C ENSP00000370256.2:p.Gln92Pro
NM_001453.2:c.275A>C NP_001444.2:p.Gln92Pro
NM_001453.3:c.275A>C MANE Select NP_001444.2:p.Gln92Pro
Search 100 bp 5'
Search 100 bp 3'