Canonical Allele Identifier: CA388787236
Gene: F7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113119003C>G , CM000675.2:g.113119003C>G GRCh38
NC_000013.10:g.113773317C>G , CM000675.1:g.113773317C>G GRCh37
NC_000013.9:g.112821318C>G NCBI36
NG_009258.1:g.1205C>G , LRG_548:g.1205C>G
NG_009262.1:g.18213C>G , LRG_554:g.18213C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346342.8:c.1330C>G MANE Select ENSP00000329546.4:p.Pro444Ala
ENST00000346342.7:c.1330C>G ENSP00000329546.3:p.Pro444Ala
ENST00000375581.3:c.1396C>G ENSP00000364731.3:p.Pro466Ala
ENST00000541084.5:c.1144C>G ENSP00000442051.2:p.Pro382Ala
NM_000131.4:c.1396C>G , LRG_554t1:c.1396C>G NP_000122.1:p.Pro466Ala
NM_001267554.1:c.1144C>G NP_001254483.1:p.Pro382Ala
NM_019616.3:c.1330C>G , LRG_554t2:c.1330C>G NP_062562.1:p.Pro444Ala
NR_051961.1:n.1417C>G
XM_006719963.2:c.1189C>G XP_006720026.1:p.Pro397Ala
XM_011537474.1:c.1438C>G XP_011535776.1:p.Pro480Ala
XM_011537475.1:c.1252C>G XP_011535777.1:p.Pro418Ala
XM_011537476.1:c.1090C>G XP_011535778.1:p.Pro364Ala
XM_011537477.1:c.1399C>G XP_011535779.1:p.Pro467Ala
XM_006719963.3:c.1234C>G XP_006720026.2:p.Pro412Ala
XM_011537474.2:c.1483C>G XP_011535776.2:p.Pro495Ala
XM_011537475.2:c.1297C>G XP_011535777.2:p.Pro433Ala
XM_011537476.2:c.1090C>G XP_011535778.1:p.Pro364Ala
NM_019616.4:c.1330C>G MANE Select NP_062562.1:p.Pro444Ala
NR_051961.2:n.1414C>G
NM_001267554.2:c.1144C>G NP_001254483.1:p.Pro382Ala