Canonical Allele Identifier: CA1519939614

Linked Data

dbSNP Id: rs1741348208

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288095G>C , CM000666.2:g.186288095G>C GRCh38
NC_000004.11:g.187209249G>C , CM000666.1:g.187209249G>C GRCh37
NC_000004.10:g.187446243G>C NCBI36
NG_008051.1:g.27132G>C , LRG_583:g.27132G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+272G>C (F11) MANE Select ENSP00000384957.2:n.1716+272G>C
ENST00000264691.4:c.316+272G>C (F11)
ENST00000264692.8:c.1554+272G>C (F11) ENSP00000264692.5:n.1554+272G>C
ENST00000403665.6:c.1716+272G>C (F11) ENSP00000384957.2:n.1716+272G>C
ENST00000503841.1:n.235+272G>C (F11)
NM_000128.3:c.1716+272G>C , LRG_583t1:c.1716+272G>C (F11) NP_000119.1:n.1716+272G>C
NR_033900.1:n.1066+333C>G (F11-AS1)
XM_005262821.2:c.1719+272G>C (F11) XP_005262878.1:n.1719+272G>C
XM_005262822.2:c.1623+272G>C (F11) XP_005262879.1:n.1623+272G>C
XM_005262823.2:c.1449+272G>C (F11) XP_005262880.1:n.1449+272G>C
XM_006714137.1:c.1671+272G>C (F11) XP_006714200.1:n.1671+272G>C
XM_005262821.4:c.1719+272G>C (F11) XP_005262878.1:n.1719+272G>C
XM_005262822.4:c.1623+272G>C (F11) XP_005262879.1:n.1623+272G>C
XM_005262823.4:c.1449+272G>C (F11) XP_005262880.1:n.1449+272G>C
XM_006714137.3:c.1671+272G>C (F11) XP_006714200.1:n.1671+272G>C
NM_000128.4:c.1716+272G>C (F11) MANE Select NP_000119.1:n.1716+272G>C