Canonical Allele Identifier: CA388782333
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113113909T>C , CM000675.2:g.113113909T>C GRCh38
NC_000013.10:g.113768223T>C , CM000675.1:g.113768223T>C GRCh37
NC_000013.9:g.112816224T>C NCBI36
NG_009262.1:g.13119T>C , LRG_554:g.13119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.313T>C MANE Select ENSP00000329546.4:p.Ser105Pro
ENST00000346342.7:c.313T>C ENSP00000329546.3:p.Ser105Pro
ENST00000375581.3:c.379T>C ENSP00000364731.3:p.Ser127Pro
ENST00000444337.1:c.*121T>C ENSP00000387669.1:n.*121T>C
ENST00000473085.1:n.260T>C
ENST00000479674.1:n.646T>C
ENST00000541084.5:c.127T>C ENSP00000442051.2:p.Ser43Pro
NM_000131.4:c.379T>C , LRG_554t1:c.379T>C NP_000122.1:p.Ser127Pro
NM_001267554.1:c.127T>C NP_001254483.1:p.Ser43Pro
NM_019616.3:c.313T>C , LRG_554t2:c.313T>C NP_062562.1:p.Ser105Pro
NR_051961.1:n.400T>C
XM_006719963.2:c.313T>C XP_006720026.1:p.Ser105Pro
XM_011537474.1:c.313T>C XP_011535776.1:p.Ser105Pro
XM_011537475.1:c.127T>C XP_011535777.1:p.Ser43Pro
XM_011537477.1:c.274T>C XP_011535779.1:p.Ser92Pro
XM_006719963.3:c.358T>C XP_006720026.2:p.Ser120Pro
XM_011537474.2:c.358T>C XP_011535776.2:p.Ser120Pro
XM_011537475.2:c.172T>C XP_011535777.2:p.Ser58Pro
NM_019616.4:c.313T>C MANE Select NP_062562.1:p.Ser105Pro
NR_051961.2:n.397T>C
NM_001267554.2:c.127T>C NP_001254483.1:p.Ser43Pro