Canonical Allele Identifier: CA2625306
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2252979
ClinVar RCV Id: RCV004107730
dbSNP Id: rs771354238
ExAC: 3:133485247 C / G
gnomAD v2: 3-133485247-C-G
gnomAD v3: 3-133766403-C-G
gnomAD v4: 3-133766403-C-G
MyVariant Identifiers: chr3:g.133485247C>G (hg19) chr3:g.133766403C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766403C>G , CM000665.2:g.133766403C>G GRCh38
NC_000003.11:g.133485247C>G , CM000665.1:g.133485247C>G GRCh37
NC_000003.10:g.134967937C>G NCBI36
NG_013080.1:g.25271C>G
NG_013080.2:g.109406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1456C>G MANE Select ENSP00000385834.3:p.Leu486Val
ENST00000402696.7:c.1456C>G ENSP00000385834.3:p.Leu486Val
ENST00000461695.1:c.126C>G
NM_001063.3:c.1456C>G NP_001054.1:p.Leu486Val
XM_011513100.1:c.1456C>G XP_011511402.1:p.Leu486Val
NM_001354703.1:c.1324C>G NP_001341632.1:p.Leu442Val
NM_001354704.1:c.1075C>G NP_001341633.1:p.Leu359Val
NM_001063.4:c.1456C>G MANE Select NP_001054.2:p.Leu486Val
NM_001354703.2:c.1324C>G NP_001341632.2:p.Leu442Val
NM_001354704.2:c.1075C>G NP_001341633.2:p.Leu359Val
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