Canonical Allele Identifier: CA4488846
Gene: PLXNA4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.132130584G>A
GRCh37 chr7:g.131815343G>A
gnomAD v2:
7:131815343 G / A
gnomAD v3:
7:132130584 G / A
gnomAD v4:
chr7-132130584-G-A
Joint Max Group AF 0.80767015 (EAS)
Genomes Max Group AF 0.80671028 (EAS)
Exomes Max Group AF 0.80557926 (EAS)
ClinVar RCV:
RCV003982440
ClinVar Variation:
3060928
dbSNP:
10954361
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.132130584G>A , CM000669.2:g.132130584G>A GRCh38
NC_000007.13:g.131815343G>A , CM000669.1:g.131815343G>A GRCh37
NC_000007.12:g.131465883G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321063.9:c.5590-10C>T MANE Select ENSP00000323194.4:n.5590-10C>T
ENST00000321063.8:c.5590-10C>T ENSP00000323194.4:n.5590-10C>T
ENST00000359827.7:c.5590-10C>T ENSP00000352882.3:n.5590-10C>T
NM_020911.1:c.5590-10C>T NP_065962.1:n.5590-10C>T
XM_005250686.3:c.5590-10C>T XP_005250743.1:n.5590-10C>T
XM_006716171.2:c.5590-10C>T XP_006716234.1:n.5590-10C>T
XM_005250686.5:c.5590-10C>T XP_005250743.1:n.5590-10C>T
XM_006716171.4:c.5590-10C>T XP_006716234.1:n.5590-10C>T
XM_017012779.1:c.5389-10C>T XP_016868268.1:n.5389-10C>T
NM_001393897.1:c.5590-10C>T NP_001380826.1:n.5590-10C>T
NM_020911.2:c.5590-10C>T MANE Select NP_065962.1:n.5590-10C>T
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