Canonical Allele Identifier: CA388785452

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113117594T>C , CM000675.2:g.113117594T>C	GRCh38
NC_000013.10:g.113771908T>C , CM000675.1:g.113771908T>C	GRCh37
NC_000013.9:g.112819909T>C	NCBI36
NG_009262.1:g.16804T>C , LRG_554:g.16804T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019616.4:c.737T>C MANE Select	NP_062562.1:p.Leu246Pro
ENST00000346342.8:c.737T>C MANE Select	ENSP00000329546.4:p.Leu246Pro
NM_000131.4:c.803T>C , LRG_554t1:c.803T>C	NP_000122.1:p.Leu268Pro
NM_001267554.1:c.551T>C	NP_001254483.1:p.Leu184Pro
NM_001267554.2:c.551T>C	NP_001254483.1:p.Leu184Pro
NM_019616.3:c.737T>C , LRG_554t2:c.737T>C	NP_062562.1:p.Leu246Pro
NR_051961.1:n.824T>C
NR_051961.2:n.821T>C
ENST00000346342.7:c.737T>C	ENSP00000329546.3:p.Leu246Pro
ENST00000375581.3:c.803T>C	ENSP00000364731.3:p.Leu268Pro
ENST00000541084.5:c.551T>C	ENSP00000442051.2:p.Leu184Pro
XM_006719963.2:c.596T>C	XP_006720026.1:p.Leu199Pro
XM_006719963.3:c.641T>C	XP_006720026.2:p.Leu214Pro
XM_011537474.1:c.845T>C	XP_011535776.1:p.Leu282Pro
XM_011537474.2:c.890T>C	XP_011535776.2:p.Leu297Pro
XM_011537475.1:c.659T>C	XP_011535777.1:p.Leu220Pro
XM_011537475.2:c.704T>C	XP_011535777.2:p.Leu235Pro
XM_011537476.1:c.497T>C	XP_011535778.1:p.Leu166Pro
XM_011537476.2:c.497T>C	XP_011535778.1:p.Leu166Pro
XM_011537477.1:c.806T>C	XP_011535779.1:p.Leu269Pro