Canonical Allele Identifier: CA388781110

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113110800C>T , CM000675.2:g.113110800C>T	GRCh38
NC_000013.10:g.113765114C>T , CM000675.1:g.113765114C>T	GRCh37
NC_000013.9:g.112813115C>T	NCBI36
NG_009262.1:g.10010C>T , LRG_554:g.10010C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019616.4:c.175C>T MANE Select	NP_062562.1:p.Gln59Ter
ENST00000346342.8:c.175C>T MANE Select	ENSP00000329546.4:p.Gln59Ter
NM_000131.4:c.241C>T , LRG_554t1:c.241C>T	NP_000122.1:p.Gln81Ter
NM_001267554.1:c.65-3047C>T	NP_001254483.1:n.65-3047C>T
NM_001267554.2:c.65-3047C>T	NP_001254483.1:n.65-3047C>T
NM_019616.3:c.175C>T , LRG_554t2:c.175C>T	NP_062562.1:p.Gln59Ter
NR_051961.1:n.215C>T
NR_051961.2:n.212C>T
ENST00000346342.7:c.175C>T	ENSP00000329546.3:p.Gln59Ter
ENST00000375581.3:c.241C>T	ENSP00000364731.3:p.Gln81Ter
ENST00000444337.1:c.161C>T	ENSP00000387669.1:p.Ala54Val
ENST00000473085.1:n.122C>T
ENST00000479674.1:n.461C>T
ENST00000541084.5:c.65-3047C>T	ENSP00000442051.2:n.65-3047C>T
XM_006719963.2:c.175C>T	XP_006720026.1:p.Gln59Ter
XM_006719963.3:c.220C>T	XP_006720026.2:p.Gln74Ter
XM_011537474.1:c.175C>T	XP_011535776.1:p.Gln59Ter
XM_011537474.2:c.220C>T	XP_011535776.2:p.Gln74Ter
XM_011537475.1:c.65-3047C>T	XP_011535777.1:n.65-3047C>T
XM_011537475.2:c.110-3047C>T	XP_011535777.2:n.110-3047C>T
XM_011537477.1:c.161C>T	XP_011535779.1:p.Ala54Val