Canonical Allele Identifier: CA10201290

Gene: FBXO7

Linked Data

• dbSNP Id: rs753392528
• ExAC: 22:32870990 A / T
• gnomAD v2: 22-32870990-A-T
• gnomAD v4: 22-32475003-A-T
• MyVariant Identifiers: chr22:g.32870990A>T (hg19) ; chr22:g.32475003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32475003A>T , CM000684.2:g.32475003A>T	GRCh38
NC_000022.10:g.32870990A>T , CM000684.1:g.32870990A>T	GRCh37
NC_000022.9:g.31200990A>T	NCBI36
NG_016001.1:g.5284A>T
NG_016001.2:g.5284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266087.12:c.1A>T MANE Select	ENSP00000266087.7:p.Met1Leu
ENST00000266087.11:c.1A>T	ENSP00000266087.7:p.Met1Leu
ENST00000420700.5:c.1A>T	ENSP00000406155.1:p.Met1Leu
ENST00000425028.5:c.1A>T	ENSP00000395823.1:p.Met1Leu
NM_012179.3:c.1A>T	NP_036311.3:p.Met1Leu
XM_011530106.1:c.-173A>T	XP_011528408.1:n.-173A>T
XM_024452207.1:c.-190A>T	XP_024307975.1:n.-190A>T
NM_012179.4:c.1A>T MANE Select	NP_036311.3:p.Met1Leu