Canonical Allele Identifier: CA442641012

Linked Data

MyVariant Identifiers: chr4:g.187207591G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286437G>C , CM000666.2:g.186286437G>C GRCh38
NC_000004.11:g.187207591G>C , CM000666.1:g.187207591G>C GRCh37
NC_000004.10:g.187444585G>C NCBI36
NG_008051.1:g.25474G>C , LRG_583:g.25474G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1503G>C (F11) MANE Select ENSP00000384957.2:p.Leu501=
ENST00000264691.4:c.176+624G>C (F11)
ENST00000264692.8:c.1341G>C (F11) ENSP00000264692.5:p.Leu447=
ENST00000403665.6:c.1503G>C (F11) ENSP00000384957.2:p.Leu501=
NM_000128.3:c.1503G>C , LRG_583t1:c.1503G>C (F11) NP_000119.1:p.Leu501=
NR_033900.1:n.1067-171C>G (F11-AS1)
XM_005262821.2:c.1506G>C (F11) XP_005262878.1:p.Leu502=
XM_005262822.2:c.1483+624G>C (F11) XP_005262879.1:n.1483+624G>C
XM_005262823.2:c.1236G>C (F11) XP_005262880.1:p.Leu412=
XM_005262824.1:c.1484-109G>C (F11) XP_005262881.1:n.1484-109G>C
XM_006714137.1:c.1458G>C (F11) XP_006714200.1:p.Leu486=
XR_938706.1:n.1911G>C (F11)
XR_938707.1:n.1888+624G>C (F11)
XM_005262821.4:c.1506G>C (F11) XP_005262878.1:p.Leu502=
XM_005262822.4:c.1483+624G>C (F11) XP_005262879.1:n.1483+624G>C
XM_005262823.4:c.1236G>C (F11) XP_005262880.1:p.Leu412=
XM_006714137.3:c.1458G>C (F11) XP_006714200.1:p.Leu486=
XR_001741172.2:n.1977G>C (F11)
NM_000128.4:c.1503G>C (F11) MANE Select NP_000119.1:p.Leu501=