Canonical Allele Identifier: CA442641045

Linked Data

MyVariant Identifiers: chr4:g.187207624T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286470T>C , CM000666.2:g.186286470T>C GRCh38
NC_000004.11:g.187207624T>C , CM000666.1:g.187207624T>C GRCh37
NC_000004.10:g.187444618T>C NCBI36
NG_008051.1:g.25507T>C , LRG_583:g.25507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1536T>C (F11) MANE Select ENSP00000384957.2:p.Thr512=
ENST00000264691.4:c.176+657T>C (F11)
ENST00000264692.8:c.1374T>C (F11) ENSP00000264692.5:p.Thr458=
ENST00000403665.6:c.1536T>C (F11) ENSP00000384957.2:p.Thr512=
NM_000128.3:c.1536T>C , LRG_583t1:c.1536T>C (F11) NP_000119.1:p.Thr512=
NR_033900.1:n.1067-204A>G (F11-AS1)
XM_005262821.2:c.1539T>C (F11) XP_005262878.1:p.Thr513=
XM_005262822.2:c.1483+657T>C (F11) XP_005262879.1:n.1483+657T>C
XM_005262823.2:c.1269T>C (F11) XP_005262880.1:p.Thr423=
XM_005262824.1:c.1484-76T>C (F11) XP_005262881.1:n.1484-76T>C
XM_006714137.1:c.1491T>C (F11) XP_006714200.1:p.Thr497=
XR_938706.1:n.1944T>C (F11)
XR_938707.1:n.1888+657T>C (F11)
XM_005262821.4:c.1539T>C (F11) XP_005262878.1:p.Thr513=
XM_005262822.4:c.1483+657T>C (F11) XP_005262879.1:n.1483+657T>C
XM_005262823.4:c.1269T>C (F11) XP_005262880.1:p.Thr423=
XM_006714137.3:c.1491T>C (F11) XP_006714200.1:p.Thr497=
XR_001741172.2:n.2010T>C (F11)
NM_000128.4:c.1536T>C (F11) MANE Select NP_000119.1:p.Thr512=