Canonical Allele Identifier: CA122121
Gene: USF1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.161039733G>A
GRCh37 chr1:g.161009523G>A
gnomAD v2:
1:161009523 G / A
gnomAD v3:
1:161039733 G / A
gnomAD v4:
chr1-161039733-G-A
Joint Max Group AF 0.27698513 (NFE)
Genomes Max Group AF 0.27538964 (NFE)
Exomes Max Group AF 0.27676055 (NFE)
ClinVar RCV:
RCV000013088
ClinVar Variation:
12294
dbSNP:
3737787
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161039733G>A , CM000663.2:g.161039733G>A GRCh38
NC_000001.10:g.161009523G>A , CM000663.1:g.161009523G>A GRCh37
NC_000001.9:g.159276147G>A NCBI36
NG_011612.1:g.11235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368020.5:c.*187C>T ENSP00000356999.1:n.*187C>T
ENST00000368021.7:c.*187C>T MANE Select ENSP00000357000.3:n.*187C>T
ENST00000472217.1:n.659C>T
NM_001276373.1:c.*187C>T NP_001263302.1:n.*187C>T
NM_007122.4:c.*187C>T NP_009053.1:n.*187C>T
NM_207005.2:c.*187C>T NP_996888.1:n.*187C>T
NM_007122.5:c.*187C>T MANE Select NP_009053.1:n.*187C>T
NM_001276373.2:c.*187C>T NP_001263302.1:n.*187C>T
NM_207005.3:c.*187C>T NP_996888.1:n.*187C>T
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