Canonical Allele Identifier: CA3614907
Gene: FOXC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.1611936C>T
GRCh37 chr6:g.1612171C>T
Revel Score:
ENST00000541209 0.020
gnomAD v2:
6:1612171 C / T
gnomAD v3:
6:1611936 C / T
gnomAD v4:
chr6-1611936-C-T
Joint Max Group AF 0.00000435 (NFE)
Exomes Max Group AF 0.00000387 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611936C>T , CM000668.2:g.1611936C>T GRCh38
NC_000006.11:g.1612171C>T , CM000668.1:g.1612171C>T GRCh37
NC_000006.10:g.1557170C>T NCBI36
NG_009368.1:g.6491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.1491C>T MANE Select ENSP00000493906.1:p.Tyr497=
ENST00000380874.3:c.1491C>T ENSP00000370256.2:p.Tyr497=
NM_001453.2:c.1491C>T NP_001444.2:p.Tyr497=
NM_001453.3:c.1491C>T MANE Select NP_001444.2:p.Tyr497=
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