Canonical Allele Identifier: CA388785770
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118417G>C , CM000675.2:g.113118417G>C GRCh38
NC_000013.10:g.113772731G>C , CM000675.1:g.113772731G>C GRCh37
NC_000013.9:g.112820732G>C NCBI36
NG_009258.1:g.619G>C , LRG_548:g.619G>C
NG_009262.1:g.17627G>C , LRG_554:g.17627G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.744G>C MANE Select ENSP00000329546.4:p.Glu248Asp
ENST00000346342.7:c.744G>C ENSP00000329546.3:p.Glu248Asp
ENST00000375581.3:c.810G>C ENSP00000364731.3:p.Glu270Asp
ENST00000541084.5:c.558G>C ENSP00000442051.2:p.Glu186Asp
NM_000131.4:c.810G>C , LRG_554t1:c.810G>C NP_000122.1:p.Glu270Asp
NM_001267554.1:c.558G>C NP_001254483.1:p.Glu186Asp
NM_019616.3:c.744G>C , LRG_554t2:c.744G>C NP_062562.1:p.Glu248Asp
NR_051961.1:n.831G>C
XM_006719963.2:c.603G>C XP_006720026.1:p.Glu201Asp
XM_011537474.1:c.852G>C XP_011535776.1:p.Glu284Asp
XM_011537475.1:c.666G>C XP_011535777.1:p.Glu222Asp
XM_011537476.1:c.504G>C XP_011535778.1:p.Glu168Asp
XM_011537477.1:c.813G>C XP_011535779.1:p.Glu271Asp
XM_006719963.3:c.648G>C XP_006720026.2:p.Glu216Asp
XM_011537474.2:c.897G>C XP_011535776.2:p.Glu299Asp
XM_011537475.2:c.711G>C XP_011535777.2:p.Glu237Asp
XM_011537476.2:c.504G>C XP_011535778.1:p.Glu168Asp
NM_019616.4:c.744G>C MANE Select NP_062562.1:p.Glu248Asp
NR_051961.2:n.828G>C
NM_001267554.2:c.558G>C NP_001254483.1:p.Glu186Asp