Canonical Allele Identifier: CA526855396

Gene: USF1

Linked Data

• dbSNP Id: rs1372016951
• gnomAD v2: 1-161010766-T-C
• gnomAD v3: 1-161040976-T-C
• gnomAD v4: 1-161040976-T-C
• MyVariant Identifiers: chr1:g.161010766T>C (hg19) ; chr1:g.161040976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161040976T>C , CM000663.2:g.161040976T>C	GRCh38
NC_000001.10:g.161010766T>C , CM000663.1:g.161010766T>C	GRCh37
NC_000001.9:g.159277390T>C	NCBI36
NG_011612.1:g.9992A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368019.5:c.477-104A>G	ENSP00000356998.1:n.477-104A>G
ENST00000368020.5:c.561-104A>G	ENSP00000356999.1:n.561-104A>G
ENST00000368021.7:c.561-104A>G MANE Select	ENSP00000357000.3:n.561-104A>G
ENST00000473969.6:c.*383-104A>G	ENSP00000435671.1:n.*383-104A>G
ENST00000496363.5:n.701-104A>G
ENST00000528768.5:c.160-104A>G
ENST00000531842.1:c.378-104A>G	ENSP00000435005.1:n.378-104A>G
NM_001276373.1:c.561-104A>G	NP_001263302.1:n.561-104A>G
NM_007122.4:c.561-104A>G	NP_009053.1:n.561-104A>G
NM_207005.2:c.384-104A>G	NP_996888.1:n.384-104A>G
NM_007122.5:c.561-104A>G MANE Select	NP_009053.1:n.561-104A>G
NM_001276373.2:c.561-104A>G	NP_001263302.1:n.561-104A>G
NM_207005.3:c.384-104A>G	NP_996888.1:n.384-104A>G