Canonical Allele Identifier: CA10689051
Gene: USF1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.161043331C>T
GRCh37 chr1:g.161013121C>T
gnomAD v2:
1:161013121 C / T
gnomAD v3:
1:161043331 C / T
gnomAD v4:
chr1-161043331-C-T
Joint Max Group AF 0.61532931 (NFE)
Genomes Max Group AF 0.61026103 (NFE)
Exomes Max Group AF 0.61537376 (NFE)
dbSNP:
2516839
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161043331C>T , CM000663.2:g.161043331C>T GRCh38
NC_000001.10:g.161013121C>T , CM000663.1:g.161013121C>T GRCh37
NC_000001.9:g.159279745C>T NCBI36
NG_011612.1:g.7637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368019.5:c.-56G>A ENSP00000356998.1:n.-56G>A
ENST00000368020.5:c.-56G>A ENSP00000356999.1:n.-56G>A
ENST00000368021.7:c.-56G>A MANE Select ENSP00000357000.3:n.-56G>A
ENST00000473969.6:c.-56G>A ENSP00000435671.1:n.-56G>A
ENST00000491629.5:n.81G>A
ENST00000496363.5:n.85G>A
ENST00000529476.1:n.112G>A
ENST00000531842.1:c.-56G>A ENSP00000435005.1:n.-56G>A
ENST00000534633.5:c.-248G>A ENSP00000432533.1:n.-248G>A
NM_001276373.1:c.-56G>A NP_001263302.1:n.-56G>A
NM_007122.4:c.-56G>A NP_009053.1:n.-56G>A
NM_207005.2:c.-202G>A NP_996888.1:n.-202G>A
NM_007122.5:c.-56G>A MANE Select NP_009053.1:n.-56G>A
NM_001276373.2:c.-56G>A NP_001263302.1:n.-56G>A
NM_207005.3:c.-202G>A NP_996888.1:n.-202G>A
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