Canonical Allele Identifier: CA388786185

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772942G>C (hg19) ; chr13:g.113118628G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118628G>C , CM000675.2:g.113118628G>C	GRCh38
NC_000013.10:g.113772942G>C , CM000675.1:g.113772942G>C	GRCh37
NC_000013.9:g.112820943G>C	NCBI36
NG_009258.1:g.830G>C , LRG_548:g.830G>C
NG_009262.1:g.17838G>C , LRG_554:g.17838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.955G>C MANE Select	ENSP00000329546.4:p.Val319Leu
ENST00000346342.7:c.955G>C	ENSP00000329546.3:p.Val319Leu
ENST00000375581.3:c.1021G>C	ENSP00000364731.3:p.Val341Leu
ENST00000541084.5:c.769G>C	ENSP00000442051.2:p.Val257Leu
NM_000131.4:c.1021G>C , LRG_554t1:c.1021G>C	NP_000122.1:p.Val341Leu
NM_001267554.1:c.769G>C	NP_001254483.1:p.Val257Leu
NM_019616.3:c.955G>C , LRG_554t2:c.955G>C	NP_062562.1:p.Val319Leu
NR_051961.1:n.1042G>C
XM_006719963.2:c.814G>C	XP_006720026.1:p.Val272Leu
XM_011537474.1:c.1063G>C	XP_011535776.1:p.Val355Leu
XM_011537475.1:c.877G>C	XP_011535777.1:p.Val293Leu
XM_011537476.1:c.715G>C	XP_011535778.1:p.Val239Leu
XM_011537477.1:c.1024G>C	XP_011535779.1:p.Val342Leu
XM_006719963.3:c.859G>C	XP_006720026.2:p.Val287Leu
XM_011537474.2:c.1108G>C	XP_011535776.2:p.Val370Leu
XM_011537475.2:c.922G>C	XP_011535777.2:p.Val308Leu
XM_011537476.2:c.715G>C	XP_011535778.1:p.Val239Leu
NM_019616.4:c.955G>C MANE Select	NP_062562.1:p.Val319Leu
NR_051961.2:n.1039G>C
NM_001267554.2:c.769G>C	NP_001254483.1:p.Val257Leu