Canonical Allele Identifier: CA388785812

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772749C>G (hg19) ; chr13:g.113118435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118435C>G , CM000675.2:g.113118435C>G	GRCh38
NC_000013.10:g.113772749C>G , CM000675.1:g.113772749C>G	GRCh37
NC_000013.9:g.112820750C>G	NCBI36
NG_009258.1:g.637C>G , LRG_548:g.637C>G
NG_009262.1:g.17645C>G , LRG_554:g.17645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.762C>G MANE Select	ENSP00000329546.4:p.His254Gln
ENST00000346342.7:c.762C>G	ENSP00000329546.3:p.His254Gln
ENST00000375581.3:c.828C>G	ENSP00000364731.3:p.His276Gln
ENST00000541084.5:c.576C>G	ENSP00000442051.2:p.His192Gln
NM_000131.4:c.828C>G , LRG_554t1:c.828C>G	NP_000122.1:p.His276Gln
NM_001267554.1:c.576C>G	NP_001254483.1:p.His192Gln
NM_019616.3:c.762C>G , LRG_554t2:c.762C>G	NP_062562.1:p.His254Gln
NR_051961.1:n.849C>G
XM_006719963.2:c.621C>G	XP_006720026.1:p.His207Gln
XM_011537474.1:c.870C>G	XP_011535776.1:p.His290Gln
XM_011537475.1:c.684C>G	XP_011535777.1:p.His228Gln
XM_011537476.1:c.522C>G	XP_011535778.1:p.His174Gln
XM_011537477.1:c.831C>G	XP_011535779.1:p.His277Gln
XM_006719963.3:c.666C>G	XP_006720026.2:p.His222Gln
XM_011537474.2:c.915C>G	XP_011535776.2:p.His305Gln
XM_011537475.2:c.729C>G	XP_011535777.2:p.His243Gln
XM_011537476.2:c.522C>G	XP_011535778.1:p.His174Gln
NM_019616.4:c.762C>G MANE Select	NP_062562.1:p.His254Gln
NR_051961.2:n.846C>G
NM_001267554.2:c.576C>G	NP_001254483.1:p.His192Gln