Canonical Allele Identifier: CA388794305

Gene: F10

Linked Data

• gnomAD v2: 13-113803701-A-C
• gnomAD v4: 13-113149387-A-C
• COSMIC: COSM5104767
• MyVariant Identifiers: chr13:g.113803701A>C (hg19) ; chr13:g.113803701_113803703delinsCGG (hg19) ; chr13:g.113149387A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149387A>C , CM000675.2:g.113149387A>C	GRCh38
NC_000013.10:g.113803701A>C , CM000675.1:g.113803701A>C	GRCh37
NC_000013.9:g.112851702A>C	NCBI36
NG_009258.1:g.31589A>C , LRG_548:g.31589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1337A>C MANE Select	ENSP00000364709.3:p.Lys446Thr
ENST00000375551.7:c.*328A>C	ENSP00000364701.3:n.*328A>C
ENST00000375559.7:c.1337A>C	ENSP00000364709.3:p.Lys446Thr
ENST00000409306.5:c.*328A>C	ENSP00000387092.1:n.*328A>C
NM_000504.3:c.1337A>C , LRG_548t1:c.1337A>C	NP_000495.1:p.Lys446Thr
NM_001312674.1:c.1205A>C	NP_001299603.1:p.Lys402Thr
NM_001312675.1:c.*328A>C	NP_001299604.1:n.*328A>C
NM_000504.4:c.1337A>C MANE Select	NP_000495.1:p.Lys446Thr
NM_001312674.2:c.1205A>C	NP_001299603.1:p.Lys402Thr
NM_001312675.2:c.*328A>C	NP_001299604.1:n.*328A>C