Canonical Allele Identifier: CA388794359

Gene: F10

Linked Data

• dbSNP Id: rs1595099848
• gnomAD v2: 13-113803713-G-T
• MyVariant Identifiers: chr13:g.113803713G>T (hg19) ; chr13:g.113149399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149399G>T , CM000675.2:g.113149399G>T	GRCh38
NC_000013.10:g.113803713G>T , CM000675.1:g.113803713G>T	GRCh37
NC_000013.9:g.112851714G>T	NCBI36
NG_009258.1:g.31601G>T , LRG_548:g.31601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1349G>T MANE Select	ENSP00000364709.3:p.Gly450Val
ENST00000375551.7:c.*340G>T	ENSP00000364701.3:n.*340G>T
ENST00000375559.7:c.1349G>T	ENSP00000364709.3:p.Gly450Val
ENST00000409306.5:c.*340G>T	ENSP00000387092.1:n.*340G>T
NM_000504.3:c.1349G>T , LRG_548t1:c.1349G>T	NP_000495.1:p.Gly450Val
NM_001312674.1:c.1217G>T	NP_001299603.1:p.Gly406Val
NM_001312675.1:c.*340G>T	NP_001299604.1:n.*340G>T
NM_000504.4:c.1349G>T MANE Select	NP_000495.1:p.Gly450Val
NM_001312674.2:c.1217G>T	NP_001299603.1:p.Gly406Val
NM_001312675.2:c.*340G>T	NP_001299604.1:n.*340G>T