Canonical Allele Identifier: CA388794611
Gene: F10 HGNC NCBI

Linked Data

ClinVar Variation Id: 880651
ClinVar RCV Id: RCV001109103 RCV004032141
dbSNP Id: rs1315933127
gnomAD v2: 13-113803779-C-T
gnomAD v3: 13-113149465-C-T
gnomAD v4: 13-113149465-C-T
MyVariant Identifiers: chr13:g.113803779C>T (hg19) chr13:g.113149465C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113149465C>T , CM000675.2:g.113149465C>T GRCh38
NC_000013.10:g.113803779C>T , CM000675.1:g.113803779C>T GRCh37
NC_000013.9:g.112851780C>T NCBI36
NG_009258.1:g.31667C>T , LRG_548:g.31667C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375559.8:c.1415C>T MANE Select ENSP00000364709.3:p.Pro472Leu
ENST00000375551.7:c.*406C>T ENSP00000364701.3:n.*406C>T
ENST00000375559.7:c.1415C>T ENSP00000364709.3:p.Pro472Leu
NM_000504.3:c.1415C>T , LRG_548t1:c.1415C>T NP_000495.1:p.Pro472Leu
NM_001312674.1:c.1283C>T NP_001299603.1:p.Pro428Leu
NM_001312675.1:c.*406C>T NP_001299604.1:n.*406C>T
NM_000504.4:c.1415C>T MANE Select NP_000495.1:p.Pro472Leu
NM_001312674.2:c.1283C>T NP_001299603.1:p.Pro428Leu
NM_001312675.2:c.*406C>T NP_001299604.1:n.*406C>T
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