Canonical Allele Identifier: CA388782327

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768222G>C (hg19) ; chr13:g.113113908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113908G>C , CM000675.2:g.113113908G>C	GRCh38
NC_000013.10:g.113768222G>C , CM000675.1:g.113768222G>C	GRCh37
NC_000013.9:g.112816223G>C	NCBI36
NG_009262.1:g.13118G>C , LRG_554:g.13118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.312G>C MANE Select	ENSP00000329546.4:p.Gln104His
ENST00000346342.7:c.312G>C	ENSP00000329546.3:p.Gln104His
ENST00000375581.3:c.378G>C	ENSP00000364731.3:p.Gln126His
ENST00000444337.1:c.*120G>C	ENSP00000387669.1:n.*120G>C
ENST00000473085.1:n.259G>C
ENST00000479674.1:n.645G>C
ENST00000541084.5:c.126G>C	ENSP00000442051.2:p.Gln42His
NM_000131.4:c.378G>C , LRG_554t1:c.378G>C	NP_000122.1:p.Gln126His
NM_001267554.1:c.126G>C	NP_001254483.1:p.Gln42His
NM_019616.3:c.312G>C , LRG_554t2:c.312G>C	NP_062562.1:p.Gln104His
NR_051961.1:n.399G>C
XM_006719963.2:c.312G>C	XP_006720026.1:p.Gln104His
XM_011537474.1:c.312G>C	XP_011535776.1:p.Gln104His
XM_011537475.1:c.126G>C	XP_011535777.1:p.Gln42His
XM_011537477.1:c.273G>C	XP_011535779.1:p.Gln91His
XM_006719963.3:c.357G>C	XP_006720026.2:p.Gln119His
XM_011537474.2:c.357G>C	XP_011535776.2:p.Gln119His
XM_011537475.2:c.171G>C	XP_011535777.2:p.Gln57His
NM_019616.4:c.312G>C MANE Select	NP_062562.1:p.Gln104His
NR_051961.2:n.396G>C
NM_001267554.2:c.126G>C	NP_001254483.1:p.Gln42His