Canonical Allele Identifier: CA388785832

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772759G>C (hg19) ; chr13:g.113118445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118445G>C , CM000675.2:g.113118445G>C	GRCh38
NC_000013.10:g.113772759G>C , CM000675.1:g.113772759G>C	GRCh37
NC_000013.9:g.112820760G>C	NCBI36
NG_009258.1:g.647G>C , LRG_548:g.647G>C
NG_009262.1:g.17655G>C , LRG_554:g.17655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.772G>C MANE Select	ENSP00000329546.4:p.Glu258Gln
ENST00000346342.7:c.772G>C	ENSP00000329546.3:p.Glu258Gln
ENST00000375581.3:c.838G>C	ENSP00000364731.3:p.Glu280Gln
ENST00000541084.5:c.586G>C	ENSP00000442051.2:p.Glu196Gln
NM_000131.4:c.838G>C , LRG_554t1:c.838G>C	NP_000122.1:p.Glu280Gln
NM_001267554.1:c.586G>C	NP_001254483.1:p.Glu196Gln
NM_019616.3:c.772G>C , LRG_554t2:c.772G>C	NP_062562.1:p.Glu258Gln
NR_051961.1:n.859G>C
XM_006719963.2:c.631G>C	XP_006720026.1:p.Glu211Gln
XM_011537474.1:c.880G>C	XP_011535776.1:p.Glu294Gln
XM_011537475.1:c.694G>C	XP_011535777.1:p.Glu232Gln
XM_011537476.1:c.532G>C	XP_011535778.1:p.Glu178Gln
XM_011537477.1:c.841G>C	XP_011535779.1:p.Glu281Gln
XM_006719963.3:c.676G>C	XP_006720026.2:p.Glu226Gln
XM_011537474.2:c.925G>C	XP_011535776.2:p.Glu309Gln
XM_011537475.2:c.739G>C	XP_011535777.2:p.Glu247Gln
XM_011537476.2:c.532G>C	XP_011535778.1:p.Glu178Gln
NM_019616.4:c.772G>C MANE Select	NP_062562.1:p.Glu258Gln
NR_051961.2:n.856G>C
NM_001267554.2:c.586G>C	NP_001254483.1:p.Glu196Gln