Canonical Allele Identifier: CA442641062

Linked Data

MyVariant Identifiers: chr4:g.187207652A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286498A>C , CM000666.2:g.186286498A>C GRCh38
NC_000004.11:g.187207652A>C , CM000666.1:g.187207652A>C GRCh37
NC_000004.10:g.187444646A>C NCBI36
NG_008051.1:g.25535A>C , LRG_583:g.25535A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1564A>C (F11) MANE Select ENSP00000384957.2:p.Arg522=
ENST00000264691.4:c.176+685A>C (F11)
ENST00000264692.8:c.1402A>C (F11) ENSP00000264692.5:p.Arg468=
ENST00000403665.6:c.1564A>C (F11) ENSP00000384957.2:p.Arg522=
NM_000128.3:c.1564A>C , LRG_583t1:c.1564A>C (F11) NP_000119.1:p.Arg522=
NR_033900.1:n.1067-232T>G (F11-AS1)
XM_005262821.2:c.1567A>C (F11) XP_005262878.1:p.Arg523=
XM_005262822.2:c.1483+685A>C (F11) XP_005262879.1:n.1483+685A>C
XM_005262823.2:c.1297A>C (F11) XP_005262880.1:p.Arg433=
XM_005262824.1:c.1484-48A>C (F11) XP_005262881.1:n.1484-48A>C
XM_006714137.1:c.1519A>C (F11) XP_006714200.1:p.Arg507=
XR_938706.1:n.1972A>C (F11)
XR_938707.1:n.1888+685A>C (F11)
XM_005262821.4:c.1567A>C (F11) XP_005262878.1:p.Arg523=
XM_005262822.4:c.1483+685A>C (F11) XP_005262879.1:n.1483+685A>C
XM_005262823.4:c.1297A>C (F11) XP_005262880.1:p.Arg433=
XM_006714137.3:c.1519A>C (F11) XP_006714200.1:p.Arg507=
XR_001741172.2:n.2038A>C (F11)
NM_000128.4:c.1564A>C (F11) MANE Select NP_000119.1:p.Arg522=