Canonical Allele Identifier: CA10617555

Linked Data

ClinVar Variation Id: 348387
ClinVar RCV Id: RCV000346736
dbSNP Id: rs766777099

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186289198A>T , CM000666.2:g.186289198A>T GRCh38
NC_000004.11:g.187210352A>T , CM000666.1:g.187210352A>T GRCh37
NC_000004.10:g.187447346A>T NCBI36
NG_008051.1:g.28235A>T , LRG_583:g.28235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.*584A>T (F11) MANE Select ENSP00000384957.2:n.*584A>T
NM_000128.3:c.*584A>T , LRG_583t1:c.*584A>T (F11) NP_000119.1:n.*584A>T
NR_033900.1:n.492-196T>A (F11-AS1)
XM_005262821.2:c.*584A>T (F11) XP_005262878.1:n.*584A>T
XM_005262822.2:c.*584A>T (F11) XP_005262879.1:n.*584A>T
XM_005262823.2:c.*584A>T (F11) XP_005262880.1:n.*584A>T
XM_006714137.1:c.*584A>T (F11) XP_006714200.1:n.*584A>T
XM_005262821.4:c.*584A>T (F11) XP_005262878.1:n.*584A>T
XM_005262822.4:c.*584A>T (F11) XP_005262879.1:n.*584A>T
XM_005262823.4:c.*584A>T (F11) XP_005262880.1:n.*584A>T
XM_006714137.3:c.*584A>T (F11) XP_006714200.1:n.*584A>T
NM_000128.4:c.*584A>T (F11) MANE Select NP_000119.1:n.*584A>T