Canonical Allele Identifier: CA388794431

Gene: F10

Linked Data

• gnomAD v4: 13-113149420-C-T
• MyVariant Identifiers: chr13:g.113803734C>T (hg19) ; chr13:g.113149420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149420C>T , CM000675.2:g.113149420C>T	GRCh38
NC_000013.10:g.113803734C>T , CM000675.1:g.113803734C>T	GRCh37
NC_000013.9:g.112851735C>T	NCBI36
NG_009258.1:g.31622C>T , LRG_548:g.31622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1370C>T MANE Select	ENSP00000364709.3:p.Ala457Val
ENST00000375551.7:c.*361C>T	ENSP00000364701.3:n.*361C>T
ENST00000375559.7:c.1370C>T	ENSP00000364709.3:p.Ala457Val
ENST00000409306.5:c.*361C>T	ENSP00000387092.1:n.*361C>T
NM_000504.3:c.1370C>T , LRG_548t1:c.1370C>T	NP_000495.1:p.Ala457Val
NM_001312674.1:c.1238C>T	NP_001299603.1:p.Ala413Val
NM_001312675.1:c.*361C>T	NP_001299604.1:n.*361C>T
NM_000504.4:c.1370C>T MANE Select	NP_000495.1:p.Ala457Val
NM_001312674.2:c.1238C>T	NP_001299603.1:p.Ala413Val
NM_001312675.2:c.*361C>T	NP_001299604.1:n.*361C>T