Canonical Allele Identifier: CA3063075
Gene: ANXA5 HGNC NCBI
COSMIC:
COSN8892307 (not active)
COSN8892308 (not active)
MyVariant.info:
GRCh38 chr4:g.121696590G>A
GRCh37 chr4:g.122617745G>A
gnomAD v2:
4:122617745 G / A
gnomAD v3:
4:121696590 G / A
gnomAD v4:
chr4-121696590-G-A
Joint Max Group AF 0.27686812 (AFR)
Genomes Max Group AF 0.27663285 (AFR)
Exomes Max Group AF 0.27378733 (AFR)
ClinVar RCV:
RCV003964337
ClinVar Variation:
3056546
dbSNP:
1131239
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121696590G>A , CM000666.2:g.121696590G>A GRCh38
NC_000004.11:g.122617745G>A , CM000666.1:g.122617745G>A GRCh37
NC_000004.10:g.122837195G>A NCBI36
NG_032042.1:g.5403C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296511.10:c.-1C>T MANE Select ENSP00000296511.5:n.-1C>T
ENST00000296511.9:c.-1C>T ENSP00000296511.5:n.-1C>T
ENST00000501272.6:c.-1C>T ENSP00000424106.1:n.-1C>T
ENST00000506395.5:c.-1C>T ENSP00000421421.1:n.-1C>T
ENST00000509016.5:n.130+273C>T
ENST00000511552.5:n.386C>T
ENST00000513428.5:n.165C>T
ENST00000513523.1:n.168C>T
ENST00000513728.1:c.-1C>T ENSP00000427135.1:n.-1C>T
ENST00000515017.5:c.-1C>T ENSP00000424199.1:n.-1C>T
NM_001154.3:c.-1C>T NP_001145.1:n.-1C>T
XM_017008141.2:c.-1C>T XP_016863630.1:n.-1C>T
NM_001154.4:c.-1C>T MANE Select NP_001145.1:n.-1C>T
Search 100 bp 5'
Search 100 bp 3'