Canonical Allele Identifier: CA388781335

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113110851G>C , CM000675.2:g.113110851G>C	GRCh38
NC_000013.10:g.113765165G>C , CM000675.1:g.113765165G>C	GRCh37
NC_000013.9:g.112813166G>C	NCBI36
NG_009262.1:g.10061G>C , LRG_554:g.10061G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019616.4:c.225+1G>C MANE Select	NP_062562.1:n.225+1G>C
ENST00000346342.8:c.225+1G>C MANE Select	ENSP00000329546.4:n.225+1G>C
NM_000131.4:c.291+1G>C , LRG_554t1:c.291+1G>C	NP_000122.1:n.291+1G>C
NM_001267554.1:c.65-2996G>C	NP_001254483.1:n.65-2996G>C
NM_001267554.2:c.65-2996G>C	NP_001254483.1:n.65-2996G>C
NM_019616.3:c.225+1G>C , LRG_554t2:c.225+1G>C	NP_062562.1:n.225+1G>C
NR_051961.1:n.265+1G>C
NR_051961.2:n.262+1G>C
ENST00000346342.7:c.225+1G>C	ENSP00000329546.3:n.225+1G>C
ENST00000375581.3:c.291+1G>C	ENSP00000364731.3:n.291+1G>C
ENST00000444337.1:c.211+1G>C	ENSP00000387669.1:n.211+1G>C
ENST00000473085.1:n.172+1G>C
ENST00000479674.1:n.511+1G>C
ENST00000541084.5:c.65-2996G>C	ENSP00000442051.2:n.65-2996G>C
XM_006719963.2:c.225+1G>C	XP_006720026.1:n.225+1G>C
XM_006719963.3:c.270+1G>C	XP_006720026.2:n.270+1G>C
XM_011537474.1:c.225+1G>C	XP_011535776.1:n.225+1G>C
XM_011537474.2:c.270+1G>C	XP_011535776.2:n.270+1G>C
XM_011537475.1:c.65-2996G>C	XP_011535777.1:n.65-2996G>C
XM_011537475.2:c.110-2996G>C	XP_011535777.2:n.110-2996G>C
XM_011537477.1:c.211+1G>C	XP_011535779.1:n.211+1G>C