Canonical Allele Identifier: CA388794436

Gene: F10

Linked Data

• dbSNP Id: rs1433448339
• gnomAD v3: 13-113149422-T-C
• gnomAD v4: 13-113149422-T-C
• MyVariant Identifiers: chr13:g.113803736T>C (hg19) ; chr13:g.113149422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149422T>C , CM000675.2:g.113149422T>C	GRCh38
NC_000013.10:g.113803736T>C , CM000675.1:g.113803736T>C	GRCh37
NC_000013.9:g.112851737T>C	NCBI36
NG_009258.1:g.31624T>C , LRG_548:g.31624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1372T>C MANE Select	ENSP00000364709.3:p.Phe458Leu
ENST00000375551.7:c.*363T>C	ENSP00000364701.3:n.*363T>C
ENST00000375559.7:c.1372T>C	ENSP00000364709.3:p.Phe458Leu
ENST00000409306.5:c.*363T>C	ENSP00000387092.1:n.*363T>C
NM_000504.3:c.1372T>C , LRG_548t1:c.1372T>C	NP_000495.1:p.Phe458Leu
NM_001312674.1:c.1240T>C	NP_001299603.1:p.Phe414Leu
NM_001312675.1:c.*363T>C	NP_001299604.1:n.*363T>C
NM_000504.4:c.1372T>C MANE Select	NP_000495.1:p.Phe458Leu
NM_001312674.2:c.1240T>C	NP_001299603.1:p.Phe414Leu
NM_001312675.2:c.*363T>C	NP_001299604.1:n.*363T>C