Canonical Allele Identifier: CA388785994

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118530T>C , CM000675.2:g.113118530T>C	GRCh38
NC_000013.10:g.113772844T>C , CM000675.1:g.113772844T>C	GRCh37
NC_000013.9:g.112820845T>C	NCBI36
NG_009258.1:g.732T>C , LRG_548:g.732T>C
NG_009262.1:g.17740T>C , LRG_554:g.17740T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019616.4:c.857T>C MANE Select	NP_062562.1:p.Leu286Pro
ENST00000346342.8:c.857T>C MANE Select	ENSP00000329546.4:p.Leu286Pro
NM_000131.4:c.923T>C , LRG_554t1:c.923T>C	NP_000122.1:p.Leu308Pro
NM_001267554.1:c.671T>C	NP_001254483.1:p.Leu224Pro
NM_001267554.2:c.671T>C	NP_001254483.1:p.Leu224Pro
NM_019616.3:c.857T>C , LRG_554t2:c.857T>C	NP_062562.1:p.Leu286Pro
NR_051961.1:n.944T>C
NR_051961.2:n.941T>C
ENST00000346342.7:c.857T>C	ENSP00000329546.3:p.Leu286Pro
ENST00000375581.3:c.923T>C	ENSP00000364731.3:p.Leu308Pro
ENST00000541084.5:c.671T>C	ENSP00000442051.2:p.Leu224Pro
XM_006719963.2:c.716T>C	XP_006720026.1:p.Leu239Pro
XM_006719963.3:c.761T>C	XP_006720026.2:p.Leu254Pro
XM_011537474.1:c.965T>C	XP_011535776.1:p.Leu322Pro
XM_011537474.2:c.1010T>C	XP_011535776.2:p.Leu337Pro
XM_011537475.1:c.779T>C	XP_011535777.1:p.Leu260Pro
XM_011537475.2:c.824T>C	XP_011535777.2:p.Leu275Pro
XM_011537476.1:c.617T>C	XP_011535778.1:p.Leu206Pro
XM_011537476.2:c.617T>C	XP_011535778.1:p.Leu206Pro
XM_011537477.1:c.926T>C	XP_011535779.1:p.Leu309Pro