Canonical Allele Identifier: CA388786246

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772970G>C (hg19) ; chr13:g.113118656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118656G>C , CM000675.2:g.113118656G>C	GRCh38
NC_000013.10:g.113772970G>C , CM000675.1:g.113772970G>C	GRCh37
NC_000013.9:g.112820971G>C	NCBI36
NG_009258.1:g.858G>C , LRG_548:g.858G>C
NG_009262.1:g.17866G>C , LRG_554:g.17866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.983G>C MANE Select	ENSP00000329546.4:p.Arg328Pro
ENST00000346342.7:c.983G>C	ENSP00000329546.3:p.Arg328Pro
ENST00000375581.3:c.1049G>C	ENSP00000364731.3:p.Arg350Pro
ENST00000541084.5:c.797G>C	ENSP00000442051.2:p.Arg266Pro
NM_000131.4:c.1049G>C , LRG_554t1:c.1049G>C	NP_000122.1:p.Arg350Pro
NM_001267554.1:c.797G>C	NP_001254483.1:p.Arg266Pro
NM_019616.3:c.983G>C , LRG_554t2:c.983G>C	NP_062562.1:p.Arg328Pro
NR_051961.1:n.1070G>C
XM_006719963.2:c.842G>C	XP_006720026.1:p.Arg281Pro
XM_011537474.1:c.1091G>C	XP_011535776.1:p.Arg364Pro
XM_011537475.1:c.905G>C	XP_011535777.1:p.Arg302Pro
XM_011537476.1:c.743G>C	XP_011535778.1:p.Arg248Pro
XM_011537477.1:c.1052G>C	XP_011535779.1:p.Arg351Pro
XM_006719963.3:c.887G>C	XP_006720026.2:p.Arg296Pro
XM_011537474.2:c.1136G>C	XP_011535776.2:p.Arg379Pro
XM_011537475.2:c.950G>C	XP_011535777.2:p.Arg317Pro
XM_011537476.2:c.743G>C	XP_011535778.1:p.Arg248Pro
NM_019616.4:c.983G>C MANE Select	NP_062562.1:p.Arg328Pro
NR_051961.2:n.1067G>C
NM_001267554.2:c.797G>C	NP_001254483.1:p.Arg266Pro