Canonical Allele Identifier: CA7060006
Community Standard Title: NM_019616.4(F7):c.533T>G (p.Ile178Ser)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113116793T>G , CM000675.2:g.113116793T>G GRCh38
NC_000013.10:g.113771107T>G , CM000675.1:g.113771107T>G GRCh37
NC_000013.9:g.112819108T>G NCBI36
NG_009262.1:g.16003T>G , LRG_554:g.16003T>G

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.533T>G MANE Select NP_062562.1:p.Ile178Ser
ENST00000346342.8:c.533T>G MANE Select ENSP00000329546.4:p.Ile178Ser
NM_000131.4:c.599T>G , LRG_554t1:c.599T>G NP_000122.1:p.Ile200Ser
NM_001267554.1:c.347T>G NP_001254483.1:p.Ile116Ser
NM_001267554.2:c.347T>G NP_001254483.1:p.Ile116Ser
NM_019616.3:c.533T>G , LRG_554t2:c.533T>G NP_062562.1:p.Ile178Ser
NR_051961.1:n.620T>G
NR_051961.2:n.617T>G
ENST00000346342.7:c.533T>G ENSP00000329546.3:p.Ile178Ser
ENST00000375581.3:c.599T>G ENSP00000364731.3:p.Ile200Ser
ENST00000479674.1:n.725T>G
ENST00000541084.5:c.347T>G ENSP00000442051.2:p.Ile116Ser
XM_006719963.2:c.392T>G XP_006720026.1:p.Ile131Ser
XM_006719963.3:c.437T>G XP_006720026.2:p.Ile146Ser
XM_011537474.1:c.641T>G XP_011535776.1:p.Ile214Ser
XM_011537474.2:c.686T>G XP_011535776.2:p.Ile229Ser
XM_011537475.1:c.455T>G XP_011535777.1:p.Ile152Ser
XM_011537475.2:c.500T>G XP_011535777.2:p.Ile167Ser
XM_011537476.1:c.293T>G XP_011535778.1:p.Ile98Ser
XM_011537476.2:c.293T>G XP_011535778.1:p.Ile98Ser
XM_011537477.1:c.602T>G XP_011535779.1:p.Ile201Ser