Canonical Allele Identifier: CA388787200

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773296G>C (hg19) ; chr13:g.113118982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118982G>C , CM000675.2:g.113118982G>C	GRCh38
NC_000013.10:g.113773296G>C , CM000675.1:g.113773296G>C	GRCh37
NC_000013.9:g.112821297G>C	NCBI36
NG_009258.1:g.1184G>C , LRG_548:g.1184G>C
NG_009262.1:g.18192G>C , LRG_554:g.18192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1309G>C MANE Select	ENSP00000329546.4:p.Val437Leu
ENST00000346342.7:c.1309G>C	ENSP00000329546.3:p.Val437Leu
ENST00000375581.3:c.1375G>C	ENSP00000364731.3:p.Val459Leu
ENST00000541084.5:c.1123G>C	ENSP00000442051.2:p.Val375Leu
NM_000131.4:c.1375G>C , LRG_554t1:c.1375G>C	NP_000122.1:p.Val459Leu
NM_001267554.1:c.1123G>C	NP_001254483.1:p.Val375Leu
NM_019616.3:c.1309G>C , LRG_554t2:c.1309G>C	NP_062562.1:p.Val437Leu
NR_051961.1:n.1396G>C
XM_006719963.2:c.1168G>C	XP_006720026.1:p.Val390Leu
XM_011537474.1:c.1417G>C	XP_011535776.1:p.Val473Leu
XM_011537475.1:c.1231G>C	XP_011535777.1:p.Val411Leu
XM_011537476.1:c.1069G>C	XP_011535778.1:p.Val357Leu
XM_011537477.1:c.1378G>C	XP_011535779.1:p.Val460Leu
XM_006719963.3:c.1213G>C	XP_006720026.2:p.Val405Leu
XM_011537474.2:c.1462G>C	XP_011535776.2:p.Val488Leu
XM_011537475.2:c.1276G>C	XP_011535777.2:p.Val426Leu
XM_011537476.2:c.1069G>C	XP_011535778.1:p.Val357Leu
NM_019616.4:c.1309G>C MANE Select	NP_062562.1:p.Val437Leu
NR_051961.2:n.1393G>C
NM_001267554.2:c.1123G>C	NP_001254483.1:p.Val375Leu