Canonical Allele Identifier: CA1030202218
Gene: PIGF HGNC NCBI

Linked Data

dbSNP Id: rs3768725
gnomAD v3: 2-46593663-G-A
gnomAD v4: 2-46593663-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46593663G>A , CM000664.2:g.46593663G>A GRCh38
NC_000002.11:g.46820802G>A , CM000664.1:g.46820802G>A GRCh37
NC_000002.10:g.46674306G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000281382.11:c.438-1080C>T MANE Select ENSP00000281382.6:n.438-1080C>T
ENST00000281382.10:c.438-1080C>T ENSP00000281382.6:n.438-1080C>T
ENST00000306465.8:c.438-1080C>T ENSP00000302663.4:n.438-1080C>T
ENST00000412717.1:c.*7-1080C>T ENSP00000413202.1:n.*7-1080C>T
ENST00000420164.5:c.48-1080C>T ENSP00000410361.1:n.48-1080C>T
NM_002643.3:c.438-1080C>T NP_002634.1:n.438-1080C>T
NM_173074.2:c.438-1080C>T NP_775097.1:n.438-1080C>T
XM_005264369.2:c.438-1080C>T XP_005264426.1:n.438-1080C>T
XM_011532908.1:c.438-1080C>T XP_011531210.1:n.438-1080C>T
XM_005264369.3:c.438-1080C>T XP_005264426.1:n.438-1080C>T
XM_011532908.3:c.438-1080C>T XP_011531210.1:n.438-1080C>T
NM_002643.4:c.438-1080C>T MANE Select NP_002634.1:n.438-1080C>T
NM_173074.3:c.438-1080C>T NP_775097.1:n.438-1080C>T