Canonical Allele Identifier: CA7059970
Community Standard Title: NM_019616.4(F7):c.443G>A (p.Arg148His)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113115738G>A , CM000675.2:g.113115738G>A GRCh38
NC_000013.10:g.113770052G>A , CM000675.1:g.113770052G>A GRCh37
NC_000013.9:g.112818053G>A NCBI36
NG_009262.1:g.14948G>A , LRG_554:g.14948G>A

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.443G>A MANE Select NP_062562.1:p.Arg148His
ENST00000346342.8:c.443G>A MANE Select ENSP00000329546.4:p.Arg148His
NM_000131.4:c.509G>A , LRG_554t1:c.509G>A NP_000122.1:p.Arg170His
NM_001267554.1:c.257G>A NP_001254483.1:p.Arg86His
NM_001267554.2:c.257G>A NP_001254483.1:p.Arg86His
NM_019616.3:c.443G>A , LRG_554t2:c.443G>A NP_062562.1:p.Arg148His
NR_051961.1:n.530G>A
NR_051961.2:n.527G>A
ENST00000346342.7:c.443G>A ENSP00000329546.3:p.Arg148His
ENST00000375581.3:c.509G>A ENSP00000364731.3:p.Arg170His
ENST00000444337.1:c.*251G>A ENSP00000387669.1:n.*251G>A
ENST00000479674.1:n.698-1028G>A
ENST00000541084.5:c.257G>A ENSP00000442051.2:p.Arg86His
XM_006719963.2:c.365-1028G>A XP_006720026.1:n.365-1028G>A
XM_006719963.3:c.410-1028G>A XP_006720026.2:n.410-1028G>A
XM_011537474.1:c.551G>A XP_011535776.1:p.Arg184His
XM_011537474.2:c.596G>A XP_011535776.2:p.Arg199His
XM_011537475.1:c.365G>A XP_011535777.1:p.Arg122His
XM_011537475.2:c.410G>A XP_011535777.2:p.Arg137His
XM_011537476.1:c.203G>A XP_011535778.1:p.Arg68His
XM_011537476.2:c.203G>A XP_011535778.1:p.Arg68His
XM_011537477.1:c.512G>A XP_011535779.1:p.Arg171His