Canonical Allele Identifier: CA7060253
Community Standard Title: NM_019616.4(F7):c.1221A>G (p.Ala407=)
Gene: F7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118894A>G , CM000675.2:g.113118894A>G GRCh38
NC_000013.10:g.113773208A>G , CM000675.1:g.113773208A>G GRCh37
NC_000013.9:g.112821209A>G NCBI36
NG_009258.1:g.1096A>G , LRG_548:g.1096A>G
NG_009262.1:g.18104A>G , LRG_554:g.18104A>G

Transcript Alleles

HGVS Amino-acid Change
NM_019616.4:c.1221A>G MANE Select NP_062562.1:p.Ala407=
ENST00000346342.8:c.1221A>G MANE Select ENSP00000329546.4:p.Ala407=
NM_000131.4:c.1287A>G , LRG_554t1:c.1287A>G NP_000122.1:p.Ala429=
NM_001267554.1:c.1035A>G NP_001254483.1:p.Ala345=
NM_001267554.2:c.1035A>G NP_001254483.1:p.Ala345=
NM_019616.3:c.1221A>G , LRG_554t2:c.1221A>G NP_062562.1:p.Ala407=
NR_051961.1:n.1308A>G
NR_051961.2:n.1305A>G
ENST00000346342.7:c.1221A>G ENSP00000329546.3:p.Ala407=
ENST00000375581.3:c.1287A>G ENSP00000364731.3:p.Ala429=
ENST00000541084.5:c.1035A>G ENSP00000442051.2:p.Ala345=
XM_006719963.2:c.1080A>G XP_006720026.1:p.Ala360=
XM_006719963.3:c.1125A>G XP_006720026.2:p.Ala375=
XM_011537474.1:c.1329A>G XP_011535776.1:p.Ala443=
XM_011537474.2:c.1374A>G XP_011535776.2:p.Ala458=
XM_011537475.1:c.1143A>G XP_011535777.1:p.Ala381=
XM_011537475.2:c.1188A>G XP_011535777.2:p.Ala396=
XM_011537476.1:c.981A>G XP_011535778.1:p.Ala327=
XM_011537476.2:c.981A>G XP_011535778.1:p.Ala327=
XM_011537477.1:c.1290A>G XP_011535779.1:p.Ala430=