Canonical Allele Identifier: CA7060741
Gene: F10 HGNC NCBI

Linked Data

ClinVar Variation Id: 880650
ClinVar RCV Id: RCV001109102 RCV001270547
dbSNP Id: rs771971250
ExAC: 13:113803770 G / A
gnomAD v2: 13-113803770-G-A
gnomAD v3: 13-113149456-G-A
gnomAD v4: 13-113149456-G-A
MyVariant Identifiers: chr13:g.113803770G>A (hg19) chr13:g.113149456G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113149456G>A , CM000675.2:g.113149456G>A GRCh38
NC_000013.10:g.113803770G>A , CM000675.1:g.113803770G>A GRCh37
NC_000013.9:g.112851771G>A NCBI36
NG_009258.1:g.31658G>A , LRG_548:g.31658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375559.8:c.1406G>A MANE Select ENSP00000364709.3:p.Arg469Lys
ENST00000375551.7:c.*397G>A ENSP00000364701.3:n.*397G>A
ENST00000375559.7:c.1406G>A ENSP00000364709.3:p.Arg469Lys
ENST00000409306.5:c.*397G>A ENSP00000387092.1:n.*397G>A
NM_000504.3:c.1406G>A , LRG_548t1:c.1406G>A NP_000495.1:p.Arg469Lys
NM_001312674.1:c.1274G>A NP_001299603.1:p.Arg425Lys
NM_001312675.1:c.*397G>A NP_001299604.1:n.*397G>A
NM_000504.4:c.1406G>A MANE Select NP_000495.1:p.Arg469Lys
NM_001312674.2:c.1274G>A NP_001299603.1:p.Arg425Lys
NM_001312675.2:c.*397G>A NP_001299604.1:n.*397G>A
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