Canonical Allele Identifier: CA388786009

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772851G>C (hg19) ; chr13:g.113118537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118537G>C , CM000675.2:g.113118537G>C	GRCh38
NC_000013.10:g.113772851G>C , CM000675.1:g.113772851G>C	GRCh37
NC_000013.9:g.112820852G>C	NCBI36
NG_009258.1:g.739G>C , LRG_548:g.739G>C
NG_009262.1:g.17747G>C , LRG_554:g.17747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.864G>C MANE Select	ENSP00000329546.4:p.Gln288His
ENST00000346342.7:c.864G>C	ENSP00000329546.3:p.Gln288His
ENST00000375581.3:c.930G>C	ENSP00000364731.3:p.Gln310His
ENST00000541084.5:c.678G>C	ENSP00000442051.2:p.Gln226His
NM_000131.4:c.930G>C , LRG_554t1:c.930G>C	NP_000122.1:p.Gln310His
NM_001267554.1:c.678G>C	NP_001254483.1:p.Gln226His
NM_019616.3:c.864G>C , LRG_554t2:c.864G>C	NP_062562.1:p.Gln288His
NR_051961.1:n.951G>C
XM_006719963.2:c.723G>C	XP_006720026.1:p.Gln241His
XM_011537474.1:c.972G>C	XP_011535776.1:p.Gln324His
XM_011537475.1:c.786G>C	XP_011535777.1:p.Gln262His
XM_011537476.1:c.624G>C	XP_011535778.1:p.Gln208His
XM_011537477.1:c.933G>C	XP_011535779.1:p.Gln311His
XM_006719963.3:c.768G>C	XP_006720026.2:p.Gln256His
XM_011537474.2:c.1017G>C	XP_011535776.2:p.Gln339His
XM_011537475.2:c.831G>C	XP_011535777.2:p.Gln277His
XM_011537476.2:c.624G>C	XP_011535778.1:p.Gln208His
NM_019616.4:c.864G>C MANE Select	NP_062562.1:p.Gln288His
NR_051961.2:n.948G>C
NM_001267554.2:c.678G>C	NP_001254483.1:p.Gln226His