Canonical Allele Identifier: CA7060670
Gene: F10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572129
ClinVar RCV Id: RCV003313867
dbSNP Id: rs755110383
ExAC: 13:113803400 C / T
gnomAD v2: 13-113803400-C-T
gnomAD v3: 13-113149086-C-T
gnomAD v4: 13-113149086-C-T
MyVariant Identifiers: chr13:g.113803400C>T (hg19) chr13:g.113149086C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113149086C>T , CM000675.2:g.113149086C>T GRCh38
NC_000013.10:g.113803400C>T , CM000675.1:g.113803400C>T GRCh37
NC_000013.9:g.112851401C>T NCBI36
NG_009258.1:g.31288C>T , LRG_548:g.31288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375559.8:c.1036C>T MANE Select ENSP00000364709.3:p.Arg346Cys
ENST00000375551.7:c.*27C>T ENSP00000364701.3:n.*27C>T
ENST00000375559.7:c.1036C>T ENSP00000364709.3:p.Arg346Cys
ENST00000409306.5:c.*27C>T ENSP00000387092.1:n.*27C>T
NM_000504.3:c.1036C>T , LRG_548t1:c.1036C>T NP_000495.1:p.Arg346Cys
NM_001312674.1:c.904C>T NP_001299603.1:p.Arg302Cys
NM_001312675.1:c.*27C>T NP_001299604.1:n.*27C>T
NM_000504.4:c.1036C>T MANE Select NP_000495.1:p.Arg346Cys
NM_001312674.2:c.904C>T NP_001299603.1:p.Arg302Cys
NM_001312675.2:c.*27C>T NP_001299604.1:n.*27C>T
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