Canonical Allele Identifier: CA388786789
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118827C>T , CM000675.2:g.113118827C>T GRCh38
NC_000013.10:g.113773141C>T , CM000675.1:g.113773141C>T GRCh37
NC_000013.9:g.112821142C>T NCBI36
NG_009258.1:g.1029C>T , LRG_548:g.1029C>T
NG_009262.1:g.18037C>T , LRG_554:g.18037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1154C>T MANE Select ENSP00000329546.4:p.Pro385Leu
ENST00000346342.7:c.1154C>T ENSP00000329546.3:p.Pro385Leu
ENST00000375581.3:c.1220C>T ENSP00000364731.3:p.Pro407Leu
ENST00000541084.5:c.968C>T ENSP00000442051.2:p.Pro323Leu
NM_000131.4:c.1220C>T , LRG_554t1:c.1220C>T NP_000122.1:p.Pro407Leu
NM_001267554.1:c.968C>T NP_001254483.1:p.Pro323Leu
NM_019616.3:c.1154C>T , LRG_554t2:c.1154C>T NP_062562.1:p.Pro385Leu
NR_051961.1:n.1241C>T
XM_006719963.2:c.1013C>T XP_006720026.1:p.Pro338Leu
XM_011537474.1:c.1262C>T XP_011535776.1:p.Pro421Leu
XM_011537475.1:c.1076C>T XP_011535777.1:p.Pro359Leu
XM_011537476.1:c.914C>T XP_011535778.1:p.Pro305Leu
XM_011537477.1:c.1223C>T XP_011535779.1:p.Pro408Leu
XM_006719963.3:c.1058C>T XP_006720026.2:p.Pro353Leu
XM_011537474.2:c.1307C>T XP_011535776.2:p.Pro436Leu
XM_011537475.2:c.1121C>T XP_011535777.2:p.Pro374Leu
XM_011537476.2:c.914C>T XP_011535778.1:p.Pro305Leu
NM_019616.4:c.1154C>T MANE Select NP_062562.1:p.Pro385Leu
NR_051961.2:n.1238C>T
NM_001267554.2:c.968C>T NP_001254483.1:p.Pro323Leu