Canonical Allele Identifier: CA388793789

Gene: F10

Linked Data

• ClinVar Variation Id: 3091380
• ClinVar RCV Id: RCV004385766
• MyVariant Identifiers: chr13:g.113803592A>C (hg19) ; chr13:g.113149278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149278A>C , CM000675.2:g.113149278A>C	GRCh38
NC_000013.10:g.113803592A>C , CM000675.1:g.113803592A>C	GRCh37
NC_000013.9:g.112851593A>C	NCBI36
NG_009258.1:g.31480A>C , LRG_548:g.31480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1228A>C MANE Select	ENSP00000364709.3:p.Lys410Gln
ENST00000375551.7:c.*219A>C	ENSP00000364701.3:n.*219A>C
ENST00000375559.7:c.1228A>C	ENSP00000364709.3:p.Lys410Gln
ENST00000409306.5:c.*219A>C	ENSP00000387092.1:n.*219A>C
NM_000504.3:c.1228A>C , LRG_548t1:c.1228A>C	NP_000495.1:p.Lys410Gln
NM_001312674.1:c.1096A>C	NP_001299603.1:p.Lys366Gln
NM_001312675.1:c.*219A>C	NP_001299604.1:n.*219A>C
NM_000504.4:c.1228A>C MANE Select	NP_000495.1:p.Lys410Gln
NM_001312674.2:c.1096A>C	NP_001299603.1:p.Lys366Gln
NM_001312675.2:c.*219A>C	NP_001299604.1:n.*219A>C