Canonical Allele Identifier: CA388793853

Gene: F10

Linked Data

• ClinVar Variation Id: 626983
• ClinVar RCV Id: RCV000851674
• dbSNP Id: rs1595099677
• gnomAD v4: 13-113149287-G-A
• MyVariant Identifiers: chr13:g.113803601G>A (hg19) ; chr13:g.113149287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149287G>A , CM000675.2:g.113149287G>A	GRCh38
NC_000013.10:g.113803601G>A , CM000675.1:g.113803601G>A	GRCh37
NC_000013.9:g.112851602G>A	NCBI36
NG_009258.1:g.31489G>A , LRG_548:g.31489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1237G>A MANE Select	ENSP00000364709.3:p.Asp413Asn
ENST00000375551.7:c.*228G>A	ENSP00000364701.3:n.*228G>A
ENST00000375559.7:c.1237G>A	ENSP00000364709.3:p.Asp413Asn
ENST00000409306.5:c.*228G>A	ENSP00000387092.1:n.*228G>A
NM_000504.3:c.1237G>A , LRG_548t1:c.1237G>A	NP_000495.1:p.Asp413Asn
NM_001312674.1:c.1105G>A	NP_001299603.1:p.Asp369Asn
NM_001312675.1:c.*228G>A	NP_001299604.1:n.*228G>A
NM_000504.4:c.1237G>A MANE Select	NP_000495.1:p.Asp413Asn
NM_001312674.2:c.1105G>A	NP_001299603.1:p.Asp369Asn
NM_001312675.2:c.*228G>A	NP_001299604.1:n.*228G>A