Canonical Allele Identifier: CA566819340
Gene: VEGFA HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1196970219
gnomAD v2: 6-43737946-T-C
gnomAD v3: 6-43770209-T-C
gnomAD v4: 6-43770209-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770209T>C , CM000668.2:g.43770209T>C GRCh38
NC_000006.11:g.43737946T>C , CM000668.1:g.43737946T>C GRCh37
NC_000006.10:g.43845924T>C NCBI36
NG_008732.1:g.4994T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476772.5:n.26T>C (VEGFA)
ENST00000611736.4:c.-498T>C (VEGFA) ENSP00000478570.1:n.-498T>C
ENST00000615393.4:c.-498T>C (VEGFA) ENSP00000478034.1:n.-498T>C
ENST00000617771.4:c.-498T>C (VEGFA) ENSP00000484284.1:n.-498T>C
ENST00000621747.4:c.-498T>C (VEGFA) ENSP00000483241.1:n.-498T>C
NM_001025366.2:c.-498T>C (VEGFA) NP_001020537.2:n.-498T>C
NM_001025367.2:c.-498T>C (VEGFA) NP_001020538.2:n.-498T>C
NM_001025368.2:c.-498T>C (VEGFA) NP_001020539.2:n.-498T>C
NM_001025369.2:c.-498T>C (VEGFA) NP_001020540.2:n.-498T>C
NM_001025370.2:c.-498T>C (VEGFA) NP_001020541.2:n.-498T>C
NM_001033756.2:c.-498T>C (VEGFA) NP_001028928.1:n.-498T>C
NM_001171622.1:c.-498T>C (VEGFA) NP_001165093.1:n.-498T>C
NM_001171623.1:c.-1038T>C (VEGFA) NP_001165094.1:n.-1038T>C
NM_001171624.1:c.-1038T>C (VEGFA) NP_001165095.1:n.-1038T>C
NM_001171625.1:c.-1038T>C (VEGFA) NP_001165096.1:n.-1038T>C
NM_001171626.1:c.-1038T>C (VEGFA) NP_001165097.1:n.-1038T>C
NM_001171627.1:c.-1038T>C (VEGFA) NP_001165098.1:n.-1038T>C
NM_001171628.1:c.-1038T>C (VEGFA) NP_001165099.1:n.-1038T>C
NM_001171629.1:c.-1038T>C (VEGFA) NP_001165100.1:n.-1038T>C
NM_001171630.1:c.-1038T>C (VEGFA) NP_001165101.1:n.-1038T>C
NM_001204384.1:c.-1038T>C (VEGFA) NP_001191313.1:n.-1038T>C
NM_001204385.1:c.-498T>C (VEGFA) NP_001191314.1:n.-498T>C
NM_001317010.1:c.-1038T>C (VEGFA) NP_001303939.1:n.-1038T>C
NM_003376.5:c.-498T>C (VEGFA) NP_003367.4:n.-498T>C
NM_001318876.2:c.945+240938T>C (POLR1C) NP_001305805.1:n.945+240938T>C