Canonical Allele Identifier: CA388794017

Gene: F10

Linked Data

• dbSNP Id: rs780636002
• gnomAD v2: 13-113803628-C-G
• gnomAD v3: 13-113149314-C-G
• gnomAD v4: 13-113149314-C-G
• MyVariant Identifiers: chr13:g.113803628C>G (hg19) ; chr13:g.113149314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149314C>G , CM000675.2:g.113149314C>G	GRCh38
NC_000013.10:g.113803628C>G , CM000675.1:g.113803628C>G	GRCh37
NC_000013.9:g.112851629C>G	NCBI36
NG_009258.1:g.31516C>G , LRG_548:g.31516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1264C>G MANE Select	ENSP00000364709.3:p.Pro422Ala
ENST00000375551.7:c.*255C>G	ENSP00000364701.3:n.*255C>G
ENST00000375559.7:c.1264C>G	ENSP00000364709.3:p.Pro422Ala
ENST00000409306.5:c.*255C>G	ENSP00000387092.1:n.*255C>G
NM_000504.3:c.1264C>G , LRG_548t1:c.1264C>G	NP_000495.1:p.Pro422Ala
NM_001312674.1:c.1132C>G	NP_001299603.1:p.Pro378Ala
NM_001312675.1:c.*255C>G	NP_001299604.1:n.*255C>G
NM_000504.4:c.1264C>G MANE Select	NP_000495.1:p.Pro422Ala
NM_001312674.2:c.1132C>G	NP_001299603.1:p.Pro378Ala
NM_001312675.2:c.*255C>G	NP_001299604.1:n.*255C>G