Canonical Allele Identifier: CA10618464

Linked Data

ClinVar Variation Id: 348388
ClinVar RCV Id: RCV000393884
dbSNP Id: rs886059302

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186289250A>G , CM000666.2:g.186289250A>G GRCh38
NC_000004.11:g.187210404A>G , CM000666.1:g.187210404A>G GRCh37
NC_000004.10:g.187447398A>G NCBI36
NG_008051.1:g.28287A>G , LRG_583:g.28287A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.*636A>G (F11) MANE Select ENSP00000384957.2:n.*636A>G
NM_000128.3:c.*636A>G , LRG_583t1:c.*636A>G (F11) NP_000119.1:n.*636A>G
NR_033900.1:n.492-248T>C (F11-AS1)
XM_005262821.2:c.*636A>G (F11) XP_005262878.1:n.*636A>G
XM_005262822.2:c.*636A>G (F11) XP_005262879.1:n.*636A>G
XM_005262823.2:c.*636A>G (F11) XP_005262880.1:n.*636A>G
XM_006714137.1:c.*636A>G (F11) XP_006714200.1:n.*636A>G
XM_005262821.4:c.*636A>G (F11) XP_005262878.1:n.*636A>G
XM_005262822.4:c.*636A>G (F11) XP_005262879.1:n.*636A>G
XM_005262823.4:c.*636A>G (F11) XP_005262880.1:n.*636A>G
XM_006714137.3:c.*636A>G (F11) XP_006714200.1:n.*636A>G
NM_000128.4:c.*636A>G (F11) MANE Select NP_000119.1:n.*636A>G