Canonical Allele Identifier: CA256478695

Gene: F10

Linked Data

• dbSNP Id: rs1034008840
• gnomAD v2: 13-113803478-C-T
• gnomAD v3: 13-113149164-C-T
• gnomAD v4: 13-113149164-C-T
• MyVariant Identifiers: chr13:g.113803478C>T (hg19) ; chr13:g.113149164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149164C>T , CM000675.2:g.113149164C>T	GRCh38
NC_000013.10:g.113803478C>T , CM000675.1:g.113803478C>T	GRCh37
NC_000013.9:g.112851479C>T	NCBI36
NG_009258.1:g.31366C>T , LRG_548:g.31366C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375559.8:c.1114C>T MANE Select	ENSP00000364709.3:p.Arg372Trp
ENST00000375551.7:c.*105C>T	ENSP00000364701.3:n.*105C>T
ENST00000375559.7:c.1114C>T	ENSP00000364709.3:p.Arg372Trp
ENST00000409306.5:c.*105C>T	ENSP00000387092.1:n.*105C>T
NM_000504.3:c.1114C>T , LRG_548t1:c.1114C>T	NP_000495.1:p.Arg372Trp
NM_001312674.1:c.982C>T	NP_001299603.1:p.Arg328Trp
NM_001312675.1:c.*105C>T	NP_001299604.1:n.*105C>T
NM_000504.4:c.1114C>T MANE Select	NP_000495.1:p.Arg372Trp
NM_001312674.2:c.982C>T	NP_001299603.1:p.Arg328Trp
NM_001312675.2:c.*105C>T	NP_001299604.1:n.*105C>T