Canonical Allele Identifier: CA81598448

Gene: USF3

Linked Data

• dbSNP Id: rs1042729228
• gnomAD v2: 3-113369944-C-A
• gnomAD v3: 3-113651097-C-A
• gnomAD v4: 3-113651097-C-A
• MyVariant Identifiers: chr3:g.113369944C>A (hg19) ; chr3:g.113651097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113651097C>A , CM000665.2:g.113651097C>A	GRCh38
NC_000003.11:g.113369944C>A , CM000665.1:g.113369944C>A	GRCh37
NC_000003.10:g.114852634C>A	NCBI36
NG_055006.1:g.50561G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316407.9:c.*3847G>T MANE Select	ENSP00000320794.4:n.*3847G>T
ENST00000316407.8:c.*3847G>T	ENSP00000320794.4:n.*3847G>T
ENST00000491165.5:c.257-1247G>T	ENSP00000420752.1:n.257-1247G>T
NM_001009899.3:c.*3847G>T	NP_001009899.3:n.*3847G>T
NR_111981.1:n.668-1247G>T
XM_005247208.3:c.*3847G>T	XP_005247265.2:n.*3847G>T
XM_005247208.4:c.*3847G>T	XP_005247265.2:n.*3847G>T
XM_017005871.1:c.*3847G>T	XP_016861360.1:n.*3847G>T
XM_017005872.1:c.*3847G>T	XP_016861361.1:n.*3847G>T
XM_024453391.1:c.*3847G>T	XP_024309159.1:n.*3847G>T
XM_024453392.1:c.*3847G>T	XP_024309160.1:n.*3847G>T
NM_001009899.4:c.*3847G>T MANE Select	NP_001009899.3:n.*3847G>T
NR_111981.2:n.664-1247G>T