Canonical Allele Identifier: CA256461862
Gene: F7 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118845G>C , CM000675.2:g.113118845G>C GRCh38
NC_000013.10:g.113773159G>C , CM000675.1:g.113773159G>C GRCh37
NC_000013.9:g.112821160G>C NCBI36
NG_009258.1:g.1047G>C , LRG_548:g.1047G>C
NG_009262.1:g.18055G>C , LRG_554:g.18055G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1172G>C MANE Select ENSP00000329546.4:p.Arg391Pro
ENST00000346342.7:c.1172G>C ENSP00000329546.3:p.Arg391Pro
ENST00000375581.3:c.1238G>C ENSP00000364731.3:p.Arg413Pro
ENST00000541084.5:c.986G>C ENSP00000442051.2:p.Arg329Pro
NM_000131.4:c.1238G>C , LRG_554t1:c.1238G>C NP_000122.1:p.Arg413Pro
NM_001267554.1:c.986G>C NP_001254483.1:p.Arg329Pro
NM_019616.3:c.1172G>C , LRG_554t2:c.1172G>C NP_062562.1:p.Arg391Pro
NR_051961.1:n.1259G>C
XM_006719963.2:c.1031G>C XP_006720026.1:p.Arg344Pro
XM_011537474.1:c.1280G>C XP_011535776.1:p.Arg427Pro
XM_011537475.1:c.1094G>C XP_011535777.1:p.Arg365Pro
XM_011537476.1:c.932G>C XP_011535778.1:p.Arg311Pro
XM_011537477.1:c.1241G>C XP_011535779.1:p.Arg414Pro
XM_006719963.3:c.1076G>C XP_006720026.2:p.Arg359Pro
XM_011537474.2:c.1325G>C XP_011535776.2:p.Arg442Pro
XM_011537475.2:c.1139G>C XP_011535777.2:p.Arg380Pro
XM_011537476.2:c.932G>C XP_011535778.1:p.Arg311Pro
NM_019616.4:c.1172G>C MANE Select NP_062562.1:p.Arg391Pro
NR_051961.2:n.1256G>C
NM_001267554.2:c.986G>C NP_001254483.1:p.Arg329Pro