Canonical Allele Identifier: CA7060071
Community Standard Title: NM_019616.4(F7):c.686C>T (p.Ala229Val)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113117543C>T , CM000675.2:g.113117543C>T GRCh38
NC_000013.10:g.113771857C>T , CM000675.1:g.113771857C>T GRCh37
NC_000013.9:g.112819858C>T NCBI36
NG_009262.1:g.16753C>T , LRG_554:g.16753C>T

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.686C>T MANE Select NP_062562.1:p.Ala229Val
ENST00000346342.8:c.686C>T MANE Select ENSP00000329546.4:p.Ala229Val
NM_000131.4:c.752C>T , LRG_554t1:c.752C>T NP_000122.1:p.Ala251Val
NM_001267554.1:c.500C>T NP_001254483.1:p.Ala167Val
NM_001267554.2:c.500C>T NP_001254483.1:p.Ala167Val
NM_019616.3:c.686C>T , LRG_554t2:c.686C>T NP_062562.1:p.Ala229Val
NR_051961.1:n.773C>T
NR_051961.2:n.770C>T
ENST00000346342.7:c.686C>T ENSP00000329546.3:p.Ala229Val
ENST00000375581.3:c.752C>T ENSP00000364731.3:p.Ala251Val
ENST00000541084.5:c.500C>T ENSP00000442051.2:p.Ala167Val
XM_006719963.2:c.545C>T XP_006720026.1:p.Ala182Val
XM_006719963.3:c.590C>T XP_006720026.2:p.Ala197Val
XM_011537474.1:c.794C>T XP_011535776.1:p.Ala265Val
XM_011537474.2:c.839C>T XP_011535776.2:p.Ala280Val
XM_011537475.1:c.608C>T XP_011535777.1:p.Ala203Val
XM_011537475.2:c.653C>T XP_011535777.2:p.Ala218Val
XM_011537476.1:c.446C>T XP_011535778.1:p.Ala149Val
XM_011537476.2:c.446C>T XP_011535778.1:p.Ala149Val
XM_011537477.1:c.755C>T XP_011535779.1:p.Ala252Val