Canonical Allele Identifier: CA280079
Gene: UMOD HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.20354332A>G
GRCh37 chr16:g.20365654A>G
gnomAD v2:
16:20365654 A / G
gnomAD v3:
16:20354332 A / G
gnomAD v4:
chr16-20354332-A-G
Joint Max Group AF 0.32235588 (AFR)
Genomes Max Group AF 0.32235588 (AFR)
ClinVar RCV:
RCV000203590
ClinVar Variation:
219224
dbSNP:
13333226
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20354332A>G , CM000678.2:g.20354332A>G GRCh38
NC_000016.9:g.20365654A>G , CM000678.1:g.20365654A>G GRCh37
NC_000016.8:g.20273155A>G NCBI36
NG_008151.1:g.3384T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000570689.5:c.-40+1862T>C ENSP00000460548.1:n.-40+1862T>C
XM_011545938.1:c.-40+1862T>C XP_011544240.1:n.-40+1862T>C
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