Canonical Allele Identifier: CA388782356

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768229A>C (hg19) ; chr13:g.113113915A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113915A>C , CM000675.2:g.113113915A>C	GRCh38
NC_000013.10:g.113768229A>C , CM000675.1:g.113768229A>C	GRCh37
NC_000013.9:g.112816230A>C	NCBI36
NG_009262.1:g.13125A>C , LRG_554:g.13125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.319A>C MANE Select	ENSP00000329546.4:p.Ile107Leu
ENST00000346342.7:c.319A>C	ENSP00000329546.3:p.Ile107Leu
ENST00000375581.3:c.385A>C	ENSP00000364731.3:p.Ile129Leu
ENST00000444337.1:c.*127A>C	ENSP00000387669.1:n.*127A>C
ENST00000473085.1:n.266A>C
ENST00000479674.1:n.652A>C
ENST00000541084.5:c.133A>C	ENSP00000442051.2:p.Ile45Leu
NM_000131.4:c.385A>C , LRG_554t1:c.385A>C	NP_000122.1:p.Ile129Leu
NM_001267554.1:c.133A>C	NP_001254483.1:p.Ile45Leu
NM_019616.3:c.319A>C , LRG_554t2:c.319A>C	NP_062562.1:p.Ile107Leu
NR_051961.1:n.406A>C
XM_006719963.2:c.319A>C	XP_006720026.1:p.Ile107Leu
XM_011537474.1:c.319A>C	XP_011535776.1:p.Ile107Leu
XM_011537475.1:c.133A>C	XP_011535777.1:p.Ile45Leu
XM_011537477.1:c.280A>C	XP_011535779.1:p.Ile94Leu
XM_006719963.3:c.364A>C	XP_006720026.2:p.Ile122Leu
XM_011537474.2:c.364A>C	XP_011535776.2:p.Ile122Leu
XM_011537475.2:c.178A>C	XP_011535777.2:p.Ile60Leu
NM_019616.4:c.319A>C MANE Select	NP_062562.1:p.Ile107Leu
NR_051961.2:n.403A>C
NM_001267554.2:c.133A>C	NP_001254483.1:p.Ile45Leu