Canonical Allele Identifier: CA354700853
Gene: FOXL2 HGNC NCBI

Linked Data

gnomAD v4: 3-138945683-C-T
MyVariant Identifiers: chr3:g.138664525C>T (hg19) chr3:g.138945683C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945683C>T , CM000665.2:g.138945683C>T GRCh38
NC_000003.11:g.138664525C>T , CM000665.1:g.138664525C>T GRCh37
NC_000003.10:g.140147215C>T NCBI36
NG_012454.1:g.6458G>A
NG_029796.1:g.3450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.1040G>A MANE Select ENSP00000497217.1:p.Cys347Tyr
ENST00000330315.3:c.1040G>A ENSP00000333188.3:p.Cys347Tyr
NM_023067.3:c.1040G>A NP_075555.1:p.Cys347Tyr
NM_023067.4:c.1040G>A MANE Select NP_075555.1:p.Cys347Tyr
Search 100 bp 5'
Search 100 bp 3'