Canonical Allele Identifier: CA7060699

Gene: F10

Linked Data

• dbSNP Id: rs780610993
• ExAC: 13:113803528 C / A
• gnomAD v2: 13-113803528-C-A
• MyVariant Identifiers: chr13:g.113803528C>A (hg19) ; chr13:g.113149214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149214C>A , CM000675.2:g.113149214C>A	GRCh38
NC_000013.10:g.113803528C>A , CM000675.1:g.113803528C>A	GRCh37
NC_000013.9:g.112851529C>A	NCBI36
NG_009258.1:g.31416C>A , LRG_548:g.31416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1164C>A MANE Select	ENSP00000364709.3:p.Asn388Lys
ENST00000375551.7:c.*155C>A	ENSP00000364701.3:n.*155C>A
ENST00000375559.7:c.1164C>A	ENSP00000364709.3:p.Asn388Lys
ENST00000409306.5:c.*155C>A	ENSP00000387092.1:n.*155C>A
NM_000504.3:c.1164C>A , LRG_548t1:c.1164C>A	NP_000495.1:p.Asn388Lys
NM_001312674.1:c.1032C>A	NP_001299603.1:p.Asn344Lys
NM_001312675.1:c.*155C>A	NP_001299604.1:n.*155C>A
NM_000504.4:c.1164C>A MANE Select	NP_000495.1:p.Asn388Lys
NM_001312674.2:c.1032C>A	NP_001299603.1:p.Asn344Lys
NM_001312675.2:c.*155C>A	NP_001299604.1:n.*155C>A