Canonical Allele Identifier: CA388786152
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118611T>G , CM000675.2:g.113118611T>G GRCh38
NC_000013.10:g.113772925T>G , CM000675.1:g.113772925T>G GRCh37
NC_000013.9:g.112820926T>G NCBI36
NG_009258.1:g.813T>G , LRG_548:g.813T>G
NG_009262.1:g.17821T>G , LRG_554:g.17821T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.938T>G MANE Select ENSP00000329546.4:p.Phe313Cys
ENST00000346342.7:c.938T>G ENSP00000329546.3:p.Phe313Cys
ENST00000375581.3:c.1004T>G ENSP00000364731.3:p.Phe335Cys
ENST00000541084.5:c.752T>G ENSP00000442051.2:p.Phe251Cys
NM_000131.4:c.1004T>G , LRG_554t1:c.1004T>G NP_000122.1:p.Phe335Cys
NM_001267554.1:c.752T>G NP_001254483.1:p.Phe251Cys
NM_019616.3:c.938T>G , LRG_554t2:c.938T>G NP_062562.1:p.Phe313Cys
NR_051961.1:n.1025T>G
XM_006719963.2:c.797T>G XP_006720026.1:p.Phe266Cys
XM_011537474.1:c.1046T>G XP_011535776.1:p.Phe349Cys
XM_011537475.1:c.860T>G XP_011535777.1:p.Phe287Cys
XM_011537476.1:c.698T>G XP_011535778.1:p.Phe233Cys
XM_011537477.1:c.1007T>G XP_011535779.1:p.Phe336Cys
XM_006719963.3:c.842T>G XP_006720026.2:p.Phe281Cys
XM_011537474.2:c.1091T>G XP_011535776.2:p.Phe364Cys
XM_011537475.2:c.905T>G XP_011535777.2:p.Phe302Cys
XM_011537476.2:c.698T>G XP_011535778.1:p.Phe233Cys
NM_019616.4:c.938T>G MANE Select NP_062562.1:p.Phe313Cys
NR_051961.2:n.1022T>G
NM_001267554.2:c.752T>G NP_001254483.1:p.Phe251Cys