Canonical Allele Identifier: CA122122
Gene: USF1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.161040972C>T
GRCh37 chr1:g.161010762C>T
gnomAD v2:
1:161010762 C / T
gnomAD v3:
1:161040972 C / T
gnomAD v4:
chr1-161040972-C-T
Joint Max Group AF 0.27284178 (NFE)
Genomes Max Group AF 0.27544688 (NFE)
Exomes Max Group AF 0.27246931 (NFE)
ClinVar RCV:
RCV000013089
ClinVar Variation:
12295
dbSNP:
2073658
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161040972C>T , CM000663.2:g.161040972C>T GRCh38
NC_000001.10:g.161010762C>T , CM000663.1:g.161010762C>T GRCh37
NC_000001.9:g.159277386C>T NCBI36
NG_011612.1:g.9996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368019.5:c.477-100G>A ENSP00000356998.1:n.477-100G>A
ENST00000368020.5:c.561-100G>A ENSP00000356999.1:n.561-100G>A
ENST00000368021.7:c.561-100G>A MANE Select ENSP00000357000.3:n.561-100G>A
ENST00000473969.6:c.*383-100G>A ENSP00000435671.1:n.*383-100G>A
ENST00000496363.5:n.701-100G>A
ENST00000528768.5:c.160-100G>A
ENST00000531842.1:c.378-100G>A ENSP00000435005.1:n.378-100G>A
NM_001276373.1:c.561-100G>A NP_001263302.1:n.561-100G>A
NM_007122.4:c.561-100G>A NP_009053.1:n.561-100G>A
NM_207005.2:c.384-100G>A NP_996888.1:n.384-100G>A
NM_007122.5:c.561-100G>A MANE Select NP_009053.1:n.561-100G>A
NM_001276373.2:c.561-100G>A NP_001263302.1:n.561-100G>A
NM_207005.3:c.384-100G>A NP_996888.1:n.384-100G>A
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