Canonical Allele Identifier: CA388785881
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118472A>C , CM000675.2:g.113118472A>C GRCh38
NC_000013.10:g.113772786A>C , CM000675.1:g.113772786A>C GRCh37
NC_000013.9:g.112820787A>C NCBI36
NG_009258.1:g.674A>C , LRG_548:g.674A>C
NG_009262.1:g.17682A>C , LRG_554:g.17682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.799A>C MANE Select ENSP00000329546.4:p.Ile267Leu
ENST00000346342.7:c.799A>C ENSP00000329546.3:p.Ile267Leu
ENST00000375581.3:c.865A>C ENSP00000364731.3:p.Ile289Leu
ENST00000541084.5:c.613A>C ENSP00000442051.2:p.Ile205Leu
NM_000131.4:c.865A>C , LRG_554t1:c.865A>C NP_000122.1:p.Ile289Leu
NM_001267554.1:c.613A>C NP_001254483.1:p.Ile205Leu
NM_019616.3:c.799A>C , LRG_554t2:c.799A>C NP_062562.1:p.Ile267Leu
NR_051961.1:n.886A>C
XM_006719963.2:c.658A>C XP_006720026.1:p.Ile220Leu
XM_011537474.1:c.907A>C XP_011535776.1:p.Ile303Leu
XM_011537475.1:c.721A>C XP_011535777.1:p.Ile241Leu
XM_011537476.1:c.559A>C XP_011535778.1:p.Ile187Leu
XM_011537477.1:c.868A>C XP_011535779.1:p.Ile290Leu
XM_006719963.3:c.703A>C XP_006720026.2:p.Ile235Leu
XM_011537474.2:c.952A>C XP_011535776.2:p.Ile318Leu
XM_011537475.2:c.766A>C XP_011535777.2:p.Ile256Leu
XM_011537476.2:c.559A>C XP_011535778.1:p.Ile187Leu
NM_019616.4:c.799A>C MANE Select NP_062562.1:p.Ile267Leu
NR_051961.2:n.883A>C
NM_001267554.2:c.613A>C NP_001254483.1:p.Ile205Leu