Canonical Allele Identifier: CA388785876

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772783G>C (hg19) ; chr13:g.113118469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118469G>C , CM000675.2:g.113118469G>C	GRCh38
NC_000013.10:g.113772783G>C , CM000675.1:g.113772783G>C	GRCh37
NC_000013.9:g.112820784G>C	NCBI36
NG_009258.1:g.671G>C , LRG_548:g.671G>C
NG_009262.1:g.17679G>C , LRG_554:g.17679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.796G>C MANE Select	ENSP00000329546.4:p.Val266Leu
ENST00000346342.7:c.796G>C	ENSP00000329546.3:p.Val266Leu
ENST00000375581.3:c.862G>C	ENSP00000364731.3:p.Val288Leu
ENST00000541084.5:c.610G>C	ENSP00000442051.2:p.Val204Leu
NM_000131.4:c.862G>C , LRG_554t1:c.862G>C	NP_000122.1:p.Val288Leu
NM_001267554.1:c.610G>C	NP_001254483.1:p.Val204Leu
NM_019616.3:c.796G>C , LRG_554t2:c.796G>C	NP_062562.1:p.Val266Leu
NR_051961.1:n.883G>C
XM_006719963.2:c.655G>C	XP_006720026.1:p.Val219Leu
XM_011537474.1:c.904G>C	XP_011535776.1:p.Val302Leu
XM_011537475.1:c.718G>C	XP_011535777.1:p.Val240Leu
XM_011537476.1:c.556G>C	XP_011535778.1:p.Val186Leu
XM_011537477.1:c.865G>C	XP_011535779.1:p.Val289Leu
XM_006719963.3:c.700G>C	XP_006720026.2:p.Val234Leu
XM_011537474.2:c.949G>C	XP_011535776.2:p.Val317Leu
XM_011537475.2:c.763G>C	XP_011535777.2:p.Val255Leu
XM_011537476.2:c.556G>C	XP_011535778.1:p.Val186Leu
NM_019616.4:c.796G>C MANE Select	NP_062562.1:p.Val266Leu
NR_051961.2:n.880G>C
NM_001267554.2:c.610G>C	NP_001254483.1:p.Val204Leu